Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis

[1]  M. Salido,et al.  Euchromatic variant 16p+. Implications in prenatal diagnosis , 2006, Prenatal diagnosis.

[2]  S. Langlois,et al.  X chromosome inactivation patterns in Russell–Silver syndrome patients and their mothers , 2003, American journal of medical genetics. Part A.

[3]  A. Orozco,et al.  Diploid‐tetraploid mosaicism in a malformed boy , 1985, Clinical genetics.

[4]  P. Benn,et al.  Maternal cell contamination of amniotic fluid cell cultures: results of a U.S. nationwide survey. , 1983, American journal of medical genetics.

[5]  P. Volpe,et al.  Prenatal diagnosis of chromosome 4 mosaicism: Prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization , 2005, American journal of medical genetics. Part A.

[6]  G. Sutherland,et al.  Cytogenetic studies: an essential part of the paediatric necropsy. , 1983, Journal of clinical pathology.

[7]  K. Devriendt,et al.  Prenatal diagnosis of inherited satellited non‐acrocentric chromosomes , 2000, Prenatal diagnosis.

[8]  M. Schmid,et al.  Satellited Y chromosomes: Structure, origin, and clinical significance , 2004, Human Genetics.

[9]  H. Knoblauch,et al.  Fetal Trisomy 10 Mosaicism: Ultrasound, Cytogenetic and Morphologic Findings in Early Pregnancy , 1999, Prenatal diagnosis.

[10]  M. Golabi,et al.  True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities. , 1997, American journal of medical genetics.

[11]  D. Coleman,et al.  TROPHOBLAST SAMPLING IN EARLY PREGNANCY. CULTURE OF RAPIDLY DIVIDING CELLS FROM IMMATURE PLACENTAL VILLI , 1981, British journal of obstetrics and gynaecology.

[12]  K. Nicolaides,et al.  Fetal renal defects: associated malformations and chromosomal defects. , 1992, Fetal diagnosis and therapy.

[13]  J. Wax,et al.  Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q. , 2000, Cancer genetics and cytogenetics.

[14]  R. Regal,et al.  The frequency of 47,+21, 47,+18, and 47,+13 at the uppermost extremes of maternal ages: results on 56,094 fetuses studied prenatally and comparisons with data on livebirths , 2004, Human Genetics.

[15]  E. Baker,et al.  The clinical significance of fragile sites on human chromosomes , 2000, Clinical genetics.

[16]  U. Friedrich,et al.  Chromosome studies in 5,049 consecutive newborn children , 1973, Clinical genetics.

[17]  T. Chen,et al.  In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain. , 1977, Experimental cell research.

[18]  P. Stankiewicz,et al.  Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH , 2000, Journal of medical genetics.

[19]  R. Verma,et al.  Tandemly repeated DNA sequences of the centromere resulting in 18p + , 1989, Prenatal diagnosis.

[20]  F. Lalatta,et al.  Limited value of echography to predict true fetal mosaicism for trisomy 12 , 2006, Prenatal diagnosis.

[21]  J. Nielsen,et al.  Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus, Denmark , 2005, Human Genetics.

[22]  S. Langlois,et al.  Risk of Mosaicism and Uniparental Disomy Associated with the Prenatal Diagnosis of a Non-Homologous Robertsonian Translocation Carrier , 2004, Fetal Diagnosis and Therapy.

[23]  V. Sybert,et al.  Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. , 1995, American journal of human genetics.

[24]  D. Heilbron,et al.  Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. , 1992, American journal of medical genetics.

[25]  J. Finnie,et al.  α-Mannosidosis in the Guinea Pig: A New Animal Model for Lysosomal Storage Disorders , 1999, Pediatric Research.

[26]  J L Blouin,et al.  Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. , 2000, American journal of medical genetics.

[27]  J. Carey,et al.  Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development. , 2001, American journal of medical genetics.

[28]  G. Savva,et al.  The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18 , 2008, American journal of medical genetics. Part A.

[29]  E. Garne,et al.  Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries , 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[30]  J. Crolla,et al.  Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment , 2005, The Lancet.

[31]  D. Halley,et al.  Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies , 1997, Prenatal diagnosis.

[32]  D. Roje,et al.  Trisomy 1 in an early pregnancy failure , 2008, American journal of medical genetics. Part A.

[33]  P. Di Simone,et al.  Rare sex chromosome aneuploidies in humans: report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes. , 1999, American journal of medical genetics.

[34]  H. Lubs,et al.  Human Q and C chromosomal variations: distribution and incidence. , 1975, Cytogenetics and cell genetics.

[35]  R. Berry,et al.  Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. , 2004, American journal of obstetrics and gynecology.

[36]  G. Sutherland,et al.  Chromosome studies at the paediatric necropsy , 1978 .

[37]  N. Dastugue,et al.  Chromosome studies in 952 infertile males with a sperm count below 10 million/ml , 2004, Human Genetics.

[38]  I. Craig,et al.  DETECTING MATERNAL CELL CONTAMINATION IN PRENATAL DIAGNOSIS , 1989, The Lancet.

[39]  N. Kuleshov Chromosome anomalies of infants dying during the perinatal period and premature newborn , 1976, Human Genetics.

[40]  D. Tomkins,et al.  Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. , 2002, American journal of medical genetics.

[41]  S. Langlois,et al.  Postnatal follow‐up of prenatally diagnosed trisomy 16 mosaicism , 2006, Prenatal diagnosis.

[42]  T. Kajii,et al.  Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. , 1998, American journal of medical genetics.

[43]  N. Montenegro,et al.  Positive biochemical screening for trisomy 18: on the path of trisomy 9 , 2008, Prenatal diagnosis.

[44]  K. Bilimoria,et al.  Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus , 2003, American journal of medical genetics. Part A.

[45]  D. Ledbetter,et al.  Cytogenetic results from the U.S. collaborative study on CVS , 1992, Prenatal diagnosis.

[46]  I. Uchida,et al.  Trisomy 21 Down syndrome , 1985, Human Genetics.

[47]  C. Gravholt,et al.  Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. , 2000, The Journal of clinical endocrinology and metabolism.

[48]  J. Rosell,et al.  Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis. , 1998, Journal of medical genetics.

[49]  J. Egan,et al.  Trends in the use of second trimester maternal serum screening from 1991 to 2003 , 2005, Genetics in Medicine.

[50]  M. Leipold,et al.  Pitfall: Amniocentesis fails to detect mosaic trisomy 8 in a male newborn , 1994, Prenatal diagnosis.

[51]  L. Bolund,et al.  Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). , 1993, Journal of medical genetics.

[52]  E. Hook Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. , 1977, American journal of human genetics.

[53]  A. Monaco,et al.  Yeast Artificial Chromosome Cloning of the Xq13.3-q21.31 Region and Fine Mapping of a Deletion Associated with Choroideremia and Nonspecific Mental Retardation , 1995, European journal of human genetics : EJHG.

[54]  R. Pike Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations: Test and Technology Transfer Committee , 2000, Genetics in Medicine.

[55]  D. Cox,et al.  Inversion of chromosome 2 (p11p13): Frequency and implications for genetic counselling , 2004, Human Genetics.

[56]  Carolyn J. Brown,et al.  An association between skewed X‐chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta , 2000, Clinical genetics.

[57]  A. Luciano,et al.  45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure. , 1998, Fertility and sterility.

[58]  P. Benn,et al.  Revised guidelines for the diagnosis of mosaicism in amniocytes , 1999, Prenatal diagnosis.

[59]  D. Timmerman,et al.  Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia. , 2001, American journal of medical genetics.

[60]  G. Lefort,et al.  Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms , 2006, Prenatal diagnosis.

[61]  J. Canick,et al.  Multiple-marker screening in pregnancies with hydropic and nonhydropic Turner syndrome. , 1992, American journal of obstetrics and gynecology.

[62]  C. Epstein,et al.  Mycoplasma Contamination of Cultured Amniotic Fluid Cells: Potential Hazard to Prenatal Chromosomal Diagnosis , 1974, Science.

[63]  D. Carr,et al.  Q-banding of chromosomes in human spontaneous abortions. , 1978, Canadian journal of genetics and cytology. Journal canadien de genetique et de cytologie.

[64]  K. Nicolaides,et al.  UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation , 1998, The Lancet.

[65]  S Campbell,et al.  Ultrasonographically detectable markers of fetal chromosomal abnormalities , 1992, The Lancet.

[66]  S. J. James,et al.  Maternal metabolic phenotype and risk of Down syndrome: beyond genetics. , 2004, American journal of medical genetics. Part A.

[67]  Chih-ping Chen,et al.  Fetoplacental and fetoamniotic chromosomal discrepancies in prenatally detected mosaic trisomy 9 , 2003, Prenatal diagnosis.

[68]  B. Migeon,et al.  The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. , 1994, American journal of human genetics.

[69]  V. Kučinskas,et al.  Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16 , 2004, Clinical genetics.

[70]  H. Blom,et al.  Genetic variation in genes of folate metabolism and neural-tube defect risk* , 2006, Proceedings of the Nutrition Society.

[71]  D. Ledbetter,et al.  Intrauterine Growth Retardation Associated with Maternal Uniparental Disomy for Chromosome 6 Unmasked by Congenital Adrenal Hyperplasia , 1999, Pediatric Research.

[72]  E. Calzolari,et al.  Commercial kit‐based diagnosis is not enough for prenatal testing of beta‐thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories , 2006, Prenatal diagnosis.

[73]  B. Brambati,et al.  Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. , 1987, Human reproduction.

[74]  T. Shipp,et al.  The significance of prenatally identified isolated clubfoot: is amniocentesis indicated? , 1998, American journal of obstetrics and gynecology.

[75]  D. Warburton,et al.  Trisomy recurrence: a reconsideration based on North American data. , 2004, American journal of human genetics.

[76]  J. Crolla,et al.  FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. , 1998, American journal of medical genetics.

[77]  W. Sepulveda,et al.  Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound , 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[78]  K. Nicolaides,et al.  Increased nuchal translucency with normal karyotype. , 2005, American Journal of Obstetrics and Gynecology.

[79]  L. Shaffer,et al.  Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers , 2006, European Journal of Human Genetics.

[80]  A. Nieuwint,et al.  Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question. , 2002, American journal of medical genetics.

[81]  J. Canick,et al.  Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of perinatal complications associated with placental sulfatase deficiency. , 1997, American journal of obstetrics and gynecology.

[82]  C. Fauth,et al.  Pre‐ and postnatal findings in trisomy 17 mosaicism , 2006, American journal of medical genetics. Part A.

[83]  S. Bardhan,et al.  Polymorphism in chromosome 4 , 1981, Clinical genetics.

[84]  Krista S Crider,et al.  Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003 , 2008, American journal of medical genetics. Part A.

[85]  J. Brosens,et al.  Trisomy 12 mosaicism diagnosed by amniocentesis , 1996, Acta obstetricia et gynecologica Scandinavica.

[86]  D. Kotzot,et al.  Recurrence risk in de novo structural chromosomal rearrangements , 2007, American journal of medical genetics. Part A.

[87]  B. McGillivray,et al.  Pregnancy and postnatal outcome of mosaic isochromosome 20q , 2007, Prenatal diagnosis.

[88]  W. Robinson,et al.  Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. , 1999, American journal of medical genetics.

[89]  D. Warburton Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis , 1984, Prenatal diagnosis.

[90]  D. Nyberg,et al.  Humerus and femur length shortening in the detection of Down's syndrome. , 1993, American journal of obstetrics and gynecology.

[91]  A. Daniel Structural differences in reciprocal translocations , 1979, Human Genetics.

[92]  A. Sandison,et al.  Chromosome variation in perinatal mortality: a survey of 500 cases. , 1984, Journal of medical genetics.

[93]  P. Marynen,et al.  Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. , 2005, Human molecular genetics.

[94]  H. Irving,et al.  Clinical significance of fetal choroid plexus cysts , 1995, The Lancet.

[95]  M. Steele,et al.  "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. , 1995, American journal of medical genetics.

[96]  J. Canick,et al.  Second‐trimester maternal serum analyte levels associated with fetal trisomy 13 , 1999, Prenatal diagnosis.

[97]  L. Shaffer,et al.  Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype–phenotype correlations , 2000, Prenatal diagnosis.

[98]  E. Hook,et al.  Joint estimation of Down syndrome risk and ascertainment rates: a meta‐analysis of nine published data sets , 1998, Prenatal diagnosis.

[99]  E. Hook,et al.  Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age. , 1987, American journal of human genetics.

[100]  A. Reiner,et al.  Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies. , 2003, Human reproduction.

[101]  F. Malone,et al.  The second trimester genetic sonogram , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

[102]  R. Lauwerys,et al.  ENVIRONMENTAL POLLUTION BY CADMIUM AND MORTALITY FROM RENAL DISEASES , 1981, The Lancet.

[103]  M. Fox,et al.  Chromosome studies in 496 infertile males with a sperm count below 10 million/ml , 2004, Human Genetics.

[104]  H. Ferguson,et al.  PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings , 2009, Clinical genetics.

[105]  D. Saller,et al.  The association of single umbilical artery with cytogenetically abnormal pregnancies. , 1990, American journal of obstetrics and gynecology.

[106]  D. Mutton,et al.  Maternal age‐specific fetal loss rates in Down syndrome pregnancies , 2006, Prenatal diagnosis.

[107]  A. Donnenfeld,et al.  Chromosomal abnormalities among 246 fetuses with pleural effusions detected on prenatal ultrasound examination: Factors associated with an increased risk of aneuploidy , 2005, Genetics in Medicine.

[108]  Z. Docherty,et al.  Extra euchromatic band in the qh region of chromosome 9. , 1985, Journal of medical genetics.

[109]  R. Hordijk,et al.  Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X) , 2005, American journal of medical genetics. Part A.

[110]  D. Warburton,et al.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. , 1991, American journal of human genetics.

[111]  R. Kosaki,et al.  Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism , 2006, Congenital anomalies.

[112]  S. Cicero,et al.  Increased fetal nuchal translucency at 11–14 weeks , 2002, Prenatal diagnosis.

[113]  Raouf Fetni,et al.  Prenatal cytogenetic assessment and inv(2)(p11.2q13) , 2006, Prenatal diagnosis.

[114]  E. Roeder,et al.  Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. , 1998, American journal of medical genetics.

[115]  D. Kalousek,et al.  Placental mosaicism and intrauterine survival of trisomies 13 and 18. , 1989, American journal of human genetics.

[116]  R. Chaoui,et al.  Prenatal diagnosis of 22q11 microdeletion in an early second‐trimester fetus with conotruncal anomaly presenting with increased nuchal translucency and bilateral intracardiac echogenic foci , 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[117]  N. Ursem,et al.  Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance , 2000, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[118]  P. Kozlowski,et al.  Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies , 2005, European Journal of Human Genetics.

[119]  K. Madan,et al.  C‐band polymorphism in human chromosome no. 6 , 1979, Clinical genetics.

[120]  D. F. Roberts,et al.  Cytogenetic studies in spontaneous abortuses , 2004, Human Genetics.

[121]  S. Patil,et al.  Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. , 1995, American journal of human genetics.

[122]  K. Hirschhorn,et al.  Incidence and spectrum of chromosome abnormalities in spontaneous abortions: New insights from a 12-year study , 2005, Genetics in Medicine.

[123]  G. Peters,et al.  An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub‐bands of gene paucity and pervasive CNV characterize the chromosome anomalies , 2007, American journal of medical genetics. Part A.

[124]  Chih-ping Chen,et al.  Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera , 2005, Prenatal diagnosis.

[125]  E. Calzolari,et al.  Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey , 2004, Prenatal diagnosis.

[126]  D. Lacombe,et al.  A case of trisomy 12 mosaicism with pituitary malformation and polycystic ovary syndrome. , 2006, Genetic counseling.

[127]  J. Vermeesch,et al.  Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation , 2005, Cytogenetic and Genome Research.

[128]  B. Caspi,et al.  Chorionic villus sampling and selective termination of a chromosomally abnormal fetus in a triplet pregnancy , 1992, Prenatal Diagnosis.

[129]  Significance of a prenatally diagnosed del(10)(q23). , 2002, American journal of medical genetics.

[130]  M. Mitchell,et al.  A G‐band study of chromosomes in liveborn infants , 1980, Annals of human genetics.

[131]  R. Smith-Bindman,et al.  Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome , 2007, Prenatal diagnosis.

[132]  Soma Das,et al.  Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. , 2005, Birth defects research. Part A, Clinical and molecular teratology.

[133]  U. Francke,et al.  Roberts syndrome: a review of 100 cases and a new rating system for severity. , 1993, American journal of medical genetics.

[134]  R. Tamura,et al.  A prospective study of the association between isolated fetal pyelectasis and chromosomal abnormality. , 1996, Obstetrics and gynecology.

[135]  José María Sánchez,et al.  Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi , 1999, Prenatal diagnosis.

[136]  D. Blumenthal,et al.  Prenatal diagnosis of trisomy 3 mosaicism , 2004, Prenatal diagnosis.

[137]  M Bobrow,et al.  The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminated. , 1995, American journal of human genetics.

[138]  Chih-ping Chen,et al.  Prenatal diagnosis of the distal 11q deletion and review of the literature , 2004, Prenatal diagnosis.

[139]  C. V. van Ravenswaaij-Arts,et al.  MISINTERPRETATION OF TRISOMY 18 AS A PSEUDOMOSAICISM AT THIRD‐TRIMESTER AMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY/47,XY,+3/48,XXY,+18 KARYOTYPE , 1997, Prenatal diagnosis.

[140]  A. Boué,et al.  Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the european collaborative prenatal diagnosis centres , 1986, Prenatal diagnosis.

[141]  M. Pembrey,et al.  The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study , 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[142]  J. Chernos,et al.  9qh+ variant band in two families. , 1992, American journal of medical genetics.

[143]  A. Tabor,et al.  Experience with early amniocentesis. , 1995, Journal of perinatal medicine.

[144]  A. Green,et al.  Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect , 2001, Journal of medical genetics.

[145]  M. Nir,et al.  Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations , 2005, American journal of medical genetics. Part A.

[146]  W. Robinson,et al.  The origin of abnormalities in recurrent aneuploidy/polyploidy. , 2001, American journal of human genetics.

[147]  A. Cook,et al.  Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus. , 1994, Journal of the American College of Cardiology.

[148]  T. Hassold,et al.  Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. , 1995, American Journal of Human Genetics.

[149]  J. Weber,et al.  Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. , 1993, Journal of medical genetics.

[150]  D. Ledbetter,et al.  Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. , 1999, American journal of medical genetics.

[151]  M. Bobrow,et al.  Abnormal chromosome complement after normal amniocentesis result , 1992, The Lancet.

[152]  C. Lundsteen,et al.  Erroneous Genetic Sex Determination of a Newborn Twin Girl due to Chimerism Caused by Foetal Blood Transfusion , 2003, Hormone Research in Paediatrics.

[153]  K. Nicolaides,et al.  Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6‐week scan , 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[154]  J. Clayton-Smith,et al.  FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. , 2008, American journal of human genetics.

[155]  K. Furusho,et al.  Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. , 1998, Journal of medical genetics.

[156]  K. Zerres,et al.  Uniparental Disomy and Robertsonian Translocations , 2012, Molecular Diagnosis.

[157]  J. Crolla,et al.  A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. , 1997, American journal of medical genetics.

[158]  J. Goldberg,et al.  Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15 , 1999, Prenatal diagnosis.

[159]  H. Aviv,et al.  Outcome of prenatally diagnosed trisomy 6 mosaicism , 2002, Prenatal diagnosis.

[160]  M. Vekemans,et al.  Confined placental mosaicism. , 1996, Journal of medical genetics.

[161]  A cytogenetic survey of consecutive liveborn infants-incidence and type of chromosome abnormalities , 1978, Japanese Journal of Human Genetics.

[162]  H. Hoehn,et al.  Postnatal Confirmation of Prenatally Diagnosed Trisomy 20 Mosaicism in a Patient with Linear and Whorled Nevoid Hypermelanosis , 2004, Pediatric dermatology.

[163]  P. Arn,et al.  Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature. , 1995, American journal of medical genetics.

[164]  B. Wullich,et al.  Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly , 1991, Clinical genetics.

[165]  N. Carter,et al.  Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals , 2005, European Journal of Human Genetics.

[166]  D. Warburton,et al.  Pericentric inversion of the Y chromosome and prenatal diagnosis , 1984, Prenatal diagnosis.

[167]  Jennifer L. King,et al.  Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long‐term outcome , 2001, Prenatal diagnosis.

[168]  D. Lindhout,et al.  Management of prenatally detected trisomy 8 mosaicism , 2001, Prenatal diagnosis.

[169]  B. Migeon,et al.  Translocation of the nucleolus organizer region to the human X chromosome. , 1986, American journal of human genetics.

[170]  K. Madan An extra band in human 9qh+ chromosomes , 1978, Human Genetics.

[171]  R. Berkowitz Selective termination of an abnormal fetus in multiple gestations , 1995, Prenatal diagnosis.

[172]  J. Boué,et al.  Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions , 1975 .

[173]  S. Farrell,et al.  Fetal nuchal oedema and antenatal diagnosis of trisomy 10 , 1994, Prenatal diagnosis.

[174]  J. Haddow,et al.  Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome , 2002, Journal of medical screening.

[175]  J. Graham,et al.  Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy. , 1994, American journal of medical genetics.

[176]  J. Egan,et al.  Combined Second‐Trimester Biochemical and Ultrasound Screening for Down Syndrome , 2002, Obstetrics and gynecology.

[177]  J. Mascarello,et al.  Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus , 1994, Prenatal diagnosis.

[178]  P. Savelkoul,et al.  Uniparental maternal disomy 6 in a renal transplant patient. , 1996, Human immunology.

[179]  Sucheta Bhatt,et al.  Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations , 2002, Prenatal diagnosis.

[180]  A. Schinzel Tetrasomy 12p (Pallister-Killian syndrome). , 1991, Journal of medical genetics.

[181]  J. Sonek,et al.  First trimester ultrasonography in screening and detection of fetal anomalies , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

[182]  J. Willner,et al.  Prenatal diagnosis of trisomy 4 mosaicism. , 2000, American journal of medical genetics.

[183]  J. Haddow,et al.  Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome , 2006, Prenatal diagnosis.

[184]  D. Ledbetter,et al.  Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. , 1995, Human molecular genetics.

[185]  Y. Gillerot,et al.  Prenatal diagnosis of trisomy 6 mosaicism , 2005, Prenatal diagnosis.

[186]  Z. Docherty,et al.  Rare variant of chromosome 9. , 1993, American journal of medical genetics.

[187]  P. Benn,et al.  Preliminary estimate for the second-trimester maternal serum screening detection rate of the 45,X karyotype using α-fetoprotein, unconjugated estriol and human chorionic gonadotropin , 2004, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

[188]  U. Friedrich Centromere heteromorphism in chromosome 19 , 1985, Clinical genetics.

[189]  C. Caskey,et al.  45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome. , 1992, American journal of medical genetics.

[190]  D. Kotzot Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation , 2004, European Journal of Human Genetics.

[191]  Aneal Khan,et al.  Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy , 2007, American journal of medical genetics. Part A.

[192]  B. Gasser,et al.  Pallister‐Killian syndrome: difficulties of prenatal diagnosis , 2002, Prenatal diagnosis.

[193]  R. Laxová,et al.  The critical region on the human Xq , 1990, Human Genetics.

[194]  A. Sharp,et al.  Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome , 2001, European Journal of Human Genetics.

[195]  C. J. Asperen,et al.  Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow‐up of the first 1000 pregnancies , 1989, British journal of obstetrics and gynaecology.

[196]  K. Das,et al.  Chromosomal changes in prostate cancer: A fluorescence in situ hybridization study , 2005, Clinical genetics.

[197]  I. Kedar,et al.  Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding? , 1998, American journal of medical genetics.

[198]  R. Worton,et al.  A canadian collaborative study of mosaicism in amniotic fluid cell cultures , 1984, Prenatal diagnosis.

[199]  A. Toi,et al.  Trisomy 4 in a fetus with cyclopia and other anomalies. , 1993, American journal of medical genetics.

[200]  Chih-ping Chen Detection of mosaic isochromosome 20q in amniotic fluid in a pregnancy with fetal arthrogryposis multiplex congenita and normal karyotype in fetal blood and postnatal samples of placenta, skin, and liver , 2003, Prenatal diagnosis.

[201]  J. Berens Letter: Biliary beads. , 1976, The New England journal of medicine.

[202]  C. Lin,et al.  Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique , 1976, Human Genetics.

[203]  Chih-ping Chen,et al.  Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha‐fetoprotein and human chorionic gonadotrophin , 2004, Prenatal diagnosis.

[204]  C. Fallet-Bianco,et al.  Prenatal diagnosis of a small supernumerary, XIST‐negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus , 2003, Prenatal diagnosis.

[205]  V. Dev,et al.  Partial translocation of NOR and its activity in a balanced carrier and in her cri-du-chat fetus , 1979, Human Genetics.

[206]  D. Kotzot,et al.  Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements , 2001, Journal of medical genetics.

[207]  J. Egan,et al.  Survival of Down syndrome in utero , 2000, Prenatal diagnosis.

[208]  Idzelene Ip Chromosome anomalies among newborn infants in Lithuania , 1978 .

[209]  B. Eiben,et al.  Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. , 1990, American journal of human genetics.

[210]  J. Goodship,et al.  Maternal uniparental heterodisomy for chromosome 2: detection through ‘atypical’ maternal AFP/hCG levels, with an update on a previous case , 2001, Prenatal diagnosis.

[211]  E. Haan,et al.  The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. , 1990, American journal of human genetics.

[212]  G. Tachdjian,et al.  Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome , 2005, European Journal of Human Genetics.

[213]  S. Schwartz,et al.  Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. , 1994, American journal of human genetics.

[214]  S. Bower,et al.  Hyperechogenic bowel in the second trimester fetus: a review , 2000, Prenatal diagnosis.

[215]  K. Ewen,et al.  Maternal uniparental isodisomy for chromosome 14 detected prenatally , 1999, Prenatal diagnosis.

[216]  A. Bankier,et al.  Karyotype abnormalities in fetuses diagnosed as abnormal on ultrasound before 20 weeks' gestational age , 1994, Prenatal diagnosis.

[217]  Jacques Demongeot,et al.  Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations , 1994, Human Genetics.

[218]  F. Ruddle,et al.  Chromosomal Abnormalities in the Human Population: Estimation of Rates Based on New Haven Newborn Study , 1970, Science.

[219]  S. Langlois,et al.  Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy , 2001, Prenatal diagnosis.

[220]  D. Chitayat,et al.  Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. , 1998, American journal of medical genetics.

[221]  P. Fernhoff,et al.  Pre- and postnatal diagnosis of trisomy 4 mosaicism. , 1990, American journal of medical genetics.

[222]  M. Sklansky,et al.  Prevalence of aneuploidy with a cardiac intraventricular echogenic focus in an at‐risk patient population. , 1999, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[223]  E. Lieberman,et al.  Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy. , 1998, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[224]  P. Jacobs,et al.  Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies , 1998, European Journal of Human Genetics.

[225]  Southgate Wm,et al.  Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis. , 1998 .

[226]  J. Crolla,et al.  Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23‐week gestation fetus with atrioventricular septal defect , 2006, American journal of medical genetics. Part A.

[227]  C. Faiman,et al.  Fertility in women with gonadal dysgenesis. , 1976, American journal of obstetrics and gynecology.

[228]  T. Perlis,et al.  United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis , 1984, Prenatal diagnosis.

[229]  S. Langlois,et al.  The association between preeclampsia and placental trisomy 16 mosaicism , 2006, Prenatal diagnosis.

[230]  M. Chen,et al.  Redundant skin over the nape in a girl with monosomy 1p36 caused by a de-novo satellited derivative chromosome: a possible new feature? , 2004, Clinical dysmorphology.

[231]  P. Stankiewicz,et al.  Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization , 2006, Genetics in Medicine.

[232]  J. P. Park,et al.  LETTERS TO THE EDITOR. PRENATAL DETECTION OF CHROMOSOME 20 VARIANTS (20PH+, 20PS) , 1996, Prenatal diagnosis.

[233]  M. Djalali,et al.  The significance of pericentric inversions of chromosome 2 , 2004, Human Genetics.

[234]  L. Knight,et al.  Extra G positive band on the long arm of chromosome 9. , 1993, Journal of medical genetics.

[235]  S. South,et al.  Reevaluating confined placental mosaicism , 2004, American journal of medical genetics. Part A.

[236]  B. Benacerraf The significance of the nuchal fold in the second trimester fetus , 2002, Prenatal diagnosis.

[237]  A. Telenius,et al.  Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. , 1996, American journal of medical genetics.

[238]  B. Bohnhorst,et al.  Patient with trisomy 6 mosaicism. , 2001, American journal of medical genetics.

[239]  E. Magenis,et al.  Pregnancy and the Turner syndrome. , 1978, Obstetrics and gynecology.

[240]  H. Cuckle Down syndrome fetal loss rate in early pregnancy , 1999, Prenatal diagnosis.

[241]  A. Anguiano,et al.  Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin , 1999 .

[242]  E. Hook Rates of Chromosome Abnormalities at Different Maternal Ages , 1981, Obstetrics and gynecology.

[243]  J. Hyett Does nuchal translucency have a role in fetal cardiac screening? , 2004, Prenatal diagnosis.

[244]  N. Sebire,et al.  Risk of recurrent hydatidiform mole and subsequent pregnancy outcome following complete or partial hydatidiform molar pregnancy , 2003, BJOG : an international journal of obstetrics and gynaecology.

[245]  L. Hsu,et al.  Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. , 1994, American journal of medical genetics.

[246]  Y. Kuroki,et al.  Paternal UPD14 is responsible for a distinctive malformation complex. , 2002, American journal of medical genetics.

[247]  A. Wiktor,et al.  Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect , 2001, Genetics in Medicine.

[248]  E. Hook,et al.  The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism , 2004, Human Genetics.

[249]  S. Nelson,et al.  A longitudinal case study of a child with mosaic trisomy 22: Language, cognitive, behavioral, physical, and dental outcomes , 2007, American journal of medical genetics. Part A.

[250]  P. Jacobs,et al.  A cytogenetic survey of 11,680 newborn infants , 1974, Annals of human genetics.

[251]  M. Begleiter,et al.  Maternal serum screening and 22q11.2 deletion syndrome , 2007, American journal of medical genetics. Part A.

[252]  J. Barber Directly transmitted unbalanced chromosome abnormalities and euchromatic variants , 2005, Journal of Medical Genetics.

[253]  D. Mutton,et al.  Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register , 2005, Prenatal Diagnosis.

[254]  J. Hoo A new chromosome 9 variant: an extra band within the 9qh region , 1992, Clinical genetics.

[255]  H. Jüppner,et al.  Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. , 2001, American journal of human genetics.

[256]  A. V. D. van den Ouweland,et al.  Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. , 1996, Journal of medical genetics.

[257]  H. Cuckle,et al.  Frequency of Down's syndrome and neural-tube defects in the same family , 2003, The Lancet.

[258]  K. Nicolaides,et al.  Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. , 1992, BMJ.

[259]  K. Nicolaides,et al.  International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. , 1999, Human reproduction.

[260]  N. Baena,et al.  Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries , 2004, American journal of medical genetics. Part A.

[261]  D. Howe,et al.  Fetal renal anomalies and genetic syndromes , 2001, Prenatal diagnosis.

[262]  A. Kurjak,et al.  Correlation of Confined Placental Mosaicism with Fetal Intrauterine Growth Retardation , 2000, Fetal Diagnosis and Therapy.

[263]  Chih-ping Chen,et al.  Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4 , 2004, Prenatal diagnosis.

[264]  S. Jalal,et al.  Euchromatic 9q + heteromorphism in a family. , 1990, American journal of medical genetics.

[265]  J. Crolla,et al.  A cytogenetic study of human spontaneous abortions using banding techniques , 1976, Human Genetics.

[266]  S. Kaffe,et al.  Trisomy 20 mosaicism in prenatal diagnosis–a review and update , 1987, Prenatal diagnosis.

[267]  D. Ellwood,et al.  Cytogenetic Studies in Perinatal Death , 1990, The Australian & New Zealand journal of obstetrics & gynaecology.

[268]  S. Verhoef,et al.  Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue , 1998, Prenatal diagnosis.

[269]  C. Steinlein,et al.  Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families , 1999, Journal of medical genetics.

[270]  J. Hahnemann,et al.  European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. , 1997, American journal of medical genetics.

[271]  J. Ioannidis,et al.  Diagnostic Performance of Intracardiac Echogenic Foci for Down Syndrome: A Meta‐analysis , 2003, Obstetrics and gynecology.

[272]  W. Robinson,et al.  Prenatally detected trisomy 20 mosaicism , 2005, Prenatal diagnosis.

[273]  J. Fryns,et al.  Paracentric inversions in man , 1986, Human Genetics.

[274]  A. Rauch,et al.  True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists , 1997, Prenatal diagnosis.

[275]  C. Graham,et al.  Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites. , 1995, Journal of medical genetics.

[276]  E. Girodon,et al.  Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome , 2005, European Journal of Human Genetics.

[277]  C. Hsieh,et al.  Satellited 4q identified in amniotic fluid cells. , 1995, American journal of medical genetics.

[278]  F. Palau,et al.  Nucleolus organizer regions (NORs) inserted in 6q15 , 1989, Human Genetics.

[279]  F. Natacci,et al.  Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations , 2004, Prenatal diagnosis.

[280]  D. Kalousek,et al.  Chromosomal mosaicism confined to the placenta in human conceptions. , 1983, Science.

[281]  E. M. Schoonderwaldt,et al.  Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature , 2007, American journal of medical genetics. Part A.

[282]  W. Robinson,et al.  Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. , 1993, Journal of medical genetics.

[283]  E. Hook,et al.  Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis. , 1988, American journal of human genetics.

[284]  S. Langård,et al.  Cytogenetic screening of a new‐born population , 1982, Clinical genetics.

[285]  A. Robinson,et al.  Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States. , 1987, American journal of human genetics.

[286]  Michael A. Stewart,et al.  De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2 , 1998, Clinical genetics.

[287]  E. Ades,et al.  Detection by polymerase chain reaction of all common Mycoplasma in a cell culture facility. , 1995, Pathobiology : journal of immunopathology, molecular and cellular biology.

[288]  Trung Bui,et al.  European collaborative study on prenatal diagnosis: Mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures , 1984, Prenatal diagnosis.

[289]  M. Djalali,et al.  The genetic significance of accessory bisatellited marker chromosomes , 2004, Human Genetics.

[290]  S. Sifakis,et al.  Prenatal Diagnosis of Trisomy 2 Mosaicism: A Case Report , 2004, Fetal Diagnosis and Therapy.

[291]  J. Fryns,et al.  Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female child. , 2003, Genetic counseling.

[292]  H. Eussen,et al.  Interchromosomal insertions , 2000, Human Genetics.

[293]  Y. Lacassie,et al.  Mosaic trisomy 22: Report of a patient with normal intelligence , 2005, American journal of medical genetics. Part A.

[294]  E. Wassman,et al.  "Possibly" de novo translocations: prenatal risk counseling. , 1989, American journal of obstetrics and gynecology.

[295]  R. Huch,et al.  Dandy–Walker malformation: prenatal diagnosis and outcome , 2000, Prenatal diagnosis.

[296]  R. Berkowitz,et al.  Selective termination for structural, chromosomal, and mendelian anomalies: international experience. , 1999, American journal of obstetrics and gynecology.

[297]  H. Cuckle,et al.  Familial Down syndrome: evidence supporting cytoplasmic inheritance , 2001, Clinical genetics.

[298]  J. Waters,et al.  Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories , 2001, Human Genetics.

[299]  L. Chitty,et al.  Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature , 1999, Prenatal diagnosis.

[300]  G. Peters,et al.  Issues arising from the prenatal diagnosis of some rare trisomy mosaics—the importance of cryptic fetal mosaicism , 2004, Prenatal diagnosis.

[301]  J. Hamerton,et al.  A cytogenetic survey of 14,069 newborn infants , 1975 .

[302]  J. Fryns,et al.  Pericentric inversions in man: personal experience and review of the literature , 2004, Human Genetics.

[303]  R. Wapner,et al.  Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling , 1998, Prenatal diagnosis.

[304]  M. Geisler,et al.  Cytogenetic and histologic analyses of spontaneous abortions , 1978, Human Genetics.

[305]  Reiner Siebert,et al.  Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. , 2006, American journal of human genetics.

[306]  P. Jacobs Correlation between euploid structural chromosome rearrangements and mental subnormality in humans , 1974, Nature.

[307]  J. Haddow,et al.  Major fetal abnormalities associated with positive screening tests for Smith‐Lemli‐Opitz syndrome (SLOS) , 2007, Prenatal diagnosis.

[308]  B. Pletcher,et al.  Long term follow‐up of developmental delay in a child with prenatally‐diagnosed trisomy 20 mosaicism , 2005, American journal of medical genetics. Part A.

[309]  M. Rocchi,et al.  Reciprocal translocations: a trap for cytogenetists? , 2005, Human Genetics.

[310]  J. Egan,et al.  Stepwise sequential screening for fetal aneuploidy. , 2007, American journal of obstetrics and gynecology.

[311]  D. Warburton,et al.  Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Evidence from 273 women with two karyotyped spontaneous abortions. , 1987, American journal of human genetics.

[312]  J. Wiley,et al.  45X/46X,r(X) with syndactyly and severe mental retardation. , 1987, American journal of medical genetics.

[313]  K. Hirschhorn,et al.  Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies , 1992, Prenatal diagnosis.

[314]  W. Robinson,et al.  Clinical and Molecular Analysis of Five Inv Dup(15) Patients , 1993, European journal of human genetics : EJHG.

[315]  W. Schempp,et al.  Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs) , 2004, Chromosome Research.

[316]  R. Yates Fetal cardiac abnormalities and their association with aneuploidy , 1999, Prenatal diagnosis.

[317]  V. Petrovic A new variant of chromosome 3 with unusual staining properties. , 1988, Journal of medical genetics.

[318]  K. Nicolaides,et al.  Maternal age‐specific risks for trisomies at 9—14 weeks' gestation , 1994, Prenatal diagnosis.

[319]  R. Salonen,et al.  Prenatally detected trisomy 7 mosaicism in a dysmorphic child , 2002, Prenatal diagnosis.

[320]  I. Lerer,et al.  Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate , 2002, Prenatal diagnosis.

[321]  S. Chern,et al.  De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay. , 2004, Genetic Counseling.

[322]  E. Mules,et al.  Reproductive outcomes of paracentric inversion carriers: Report of a liveborn dicentric recombinant and literature review , 2004, Human Genetics.

[323]  G. Luleci,et al.  Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) , 1996, American journal of human genetics.

[324]  E. Blennow,et al.  Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism , 1998, European Journal of Human Genetics.

[325]  E. Hook,et al.  Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. , 1989, American journal of medical genetics.

[326]  Carolyn J. Brown,et al.  Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. , 1997, American journal of human genetics.

[327]  B. Ward,et al.  MATERNAL CELL CONTAMINATION IN UNCULTURED AMNIOTIC FLUID , 1996, Prenatal diagnosis.

[328]  S. Schwartz,et al.  Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study , 2006, Journal of Medical Genetics.

[329]  K. Nicolaides,et al.  Maternal contamination of amniotic fluid demonstrated by DNA analysis , 1994, Prenatal diagnosis.

[330]  C. E. Ford,et al.  X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter , 2004, Human Genetics.

[331]  P. Stanier,et al.  The genetic aetiology of Silver–Russell syndrome , 2007, Journal of Medical Genetics.

[332]  K. S. Reddy Variants of chromosome 9 with additional euchromatic bands: two case reports. , 1996, American journal of medical genetics.

[333]  N. Tommerup Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. , 1993, Journal of medical genetics.

[334]  P. Crossen Variation in the centromeric banding of chromosome 19 * , 1975, Clinical genetics.

[335]  B. Janssen,et al.  First confirmed case with paternal uniparental disomy of chromosome 16. , 2000, American journal of medical genetics.

[336]  D. Waller,et al.  Fetal Karyotyping for Chromosome Abnormalities After an Unexplained Elevated Maternal Serum Alpha‐Fetoprotein Screening , 1995, Obstetrics and gynecology.

[337]  A. Chandley,et al.  Maternal ageing and aneuploid embryos—Evidence from the mouse that biological and not chronological age is the important influence , 2004, Human Genetics.

[338]  J. Egan,et al.  Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement , 2001, Prenatal diagnosis.

[339]  R. Smith-Bindman,et al.  Changes in the Utilization of Prenatal Diagnosis , 2004, Obstetrics and gynecology.

[340]  E. Hook,et al.  The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. , 1989, American journal of human genetics.

[341]  F. Malone,et al.  Isolated Clubfoot Diagnosed Prenatally: Is Karyotyping Indicated? , 2000, Obstetrics and gynecology.

[342]  H. McDermid,et al.  Characterization of the supernumerary chromosome in cat eye syndrome. , 1986, Science.

[343]  A. Milunsky The Prenatal Diagnosis of Chromosomal Disorders , 1979 .

[344]  K. Boer,et al.  A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies , 2001, European Journal of Human Genetics.

[345]  C L Bradshaw,et al.  RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOME OTHER THAN CHROMOSOMES 13, 18, 20, AND 21: KARYOTYPE/PHENOTYPE CORRELATIONS , 1997, Prenatal diagnosis.

[346]  M. Pertile,et al.  Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism , 2006, Prenatal diagnosis.

[347]  N. Carter,et al.  Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. , 2008, American journal of human genetics.

[348]  C. Brochot,et al.  Mirror syndrome due to parvovirus B19 hydrops complicated by severe maternal pulmonary effusion , 2006, Prenatal diagnosis.

[349]  B. Thilaganathan,et al.  Significance of chromosome 22q11 analysis after detection of an increased first‐trimester nuchal translucency , 2001, Ultrasound in Obstetrics and Gynecology.

[350]  L. Shaffer Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation , 2006, Prenatal diagnosis.

[351]  E. Engel,et al.  A new genetic concept: uniparental disomy and its potential effect, isodisomy. , 1980, American journal of medical genetics.

[352]  P. Jacobs,et al.  A cytogenetic study of 1000 spontaneous abortions , 1980, Annals of human genetics.

[353]  Y. Soong,et al.  Prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for Down syndrome. , 1999, European journal of obstetrics, gynecology, and reproductive biology.

[354]  M. Golbus,et al.  Selective termination of multiple gestations. , 1988, American journal of medical genetics.

[355]  L. Hsu Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update , 1989, Prenatal diagnosis.

[356]  B. Zoll,et al.  Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q , 2006, Prenatal diagnosis.

[357]  B. Emanuel,et al.  Molecular characterization of the marker chromosome associated with cat eye syndrome. , 1994, American journal of human genetics.

[358]  R. Fineman,et al.  Prenatal diagnosis of a large heteromorphic region in a chromosome 5: implications for genetic counseling. , 1989, American journal of medical genetics.

[359]  A. Aylsworth,et al.  Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq) , 1996, Clinical genetics.

[360]  K. Nicolaides,et al.  Fetal tricuspid regurgitation at the 11 + 0 to 13 + 6‐week scan: association with chromosomal defects and reproducibility of the method , 2006, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[361]  G. Bell,et al.  Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH , 2000, European Journal of Human Genetics.

[362]  P. N. Rao,et al.  Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. , 1995, American journal of medical genetics.

[363]  M. Seabright,et al.  Paracentric inversions in man. , 1984, Journal of medical genetics.

[364]  Y. Lam,et al.  Clinical significance of amniotic‐fluid‐cell culture failure , 1998, Prenatal Diagnosis.

[365]  Carolyn J. Brown,et al.  Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations. , 1994, American journal of human genetics.

[366]  S. Cicero,et al.  Screening for triploidy by fetal nuchal translucency and maternal serum free β‐hCG and PAPP‐A at 10–14 weeks of gestation , 2000, Prenatal diagnosis.

[367]  D. Warburton DE NOVO STRUCTURAL REARRANGEMENTS: IMPLICATIONS FOR PRENATAL DIAGNOSIS , 1982 .

[368]  D. Ledbetter,et al.  Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes , 1996, Human Genetics.

[369]  D. Horn,et al.  Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn , 2004, American journal of medical genetics. Part A.

[370]  J. Wolstenholme CONFINED PLACENTAL MOSAICISM FOR TRISOMIES 2, 3, 7, 8, 9, 16, AND 22: THEIR INCIDENCE, LIKELY ORIGINS, AND MECHANISMS FOR CELL LINEAGE COMPARTMENTALIZATION , 1996, Prenatal diagnosis.

[371]  E. Blennow,et al.  Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization , 1994, Prenatal diagnosis.

[372]  C. Morton,et al.  Confined placental mosaicism as a risk factor among newborns with fetal growth restriction , 2006, Prenatal diagnosis.

[373]  N. Wald,et al.  Fetal loss in Down syndrome pregnancies , 1999, Prenatal diagnosis.

[374]  S. Frías,et al.  Acrocentric cryptic translocation associated with nondisjunction of chromosome 21 , 2008, American journal of medical genetics. Part A.

[375]  D. Driscoll,et al.  First trimester diagnosis and screening for fetal aneuploidy , 2008, Genetics in Medicine.

[376]  W. R. Breg,et al.  Chromosome analysis of human amniotic-fluid cells. , 1966, Lancet.

[377]  Z. Papp,et al.  Risk of Chromosome Abnormalities in the Presence of Bilateral or Unilateral Choroid Plexus Cysts , 2008, Fetal Diagnosis and Therapy.

[378]  P. Jacobs,et al.  Is the prevalence of Klinefelter syndrome increasing? , 2008, European Journal of Human Genetics.

[379]  J. Barton,et al.  Difficulties in prenatal detection of mosaic trisomy 8 , 1995, Prenatal diagnosis.

[380]  A. Sharp,et al.  Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. , 1999 .

[381]  M. Macera,et al.  Molecular topography of the secondary constriction region (qh) of human chromosome 9 with an unusual euchromatic band. , 1993, American journal of human genetics.

[382]  J. Crolla,et al.  Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis , 1995, Human Genetics.

[383]  B. Chávez,et al.  Uniparental Disomy in Steroid 5α-Reductase 2 Deficiency , 2000 .

[384]  E. D'alessandro,et al.  Pericentric inversion of chromosome 19 in three families , 1988, Human Genetics.

[385]  P. Cotter,et al.  Prenatal diagnosis of de novo X;autosome translocations , 2004, Clinical genetics.

[386]  S. Jacobson,et al.  Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. , 2002, American journal of human genetics.

[387]  E. McKay,et al.  A familial insertion involving an active nucleolar organiser within chromosome 12. , 1984, Journal of medical genetics.

[388]  L. Shaffer,et al.  Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

[389]  A. Mcgregor,et al.  US Public Health Service sets out plan for xenotransplantation , 1998, The Lancet.

[390]  T. Chard,et al.  Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older , 1995, British journal of obstetrics and gynaecology.

[391]  J. Crolla FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. , 1998, American journal of medical genetics.

[392]  R. Summitt,et al.  Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 cases , 1977, Clinical genetics.

[393]  P. Gaucherand,et al.  PRENATAL DIAGNOSIS OF A TETRAPLOID FETUS , 1997, Prenatal diagnosis.

[394]  H. Schäfer,et al.  Exclusion of chromosomal mosaicism in prenatal diagnosis , 2004, Human Genetics.

[395]  S. Cicero,et al.  Nasal bone assessment in prenatal screening for trisomy 21. , 2006, American journal of obstetrics and gynecology.

[396]  M. Braekeleer,et al.  Cytogenetic studies in couples experiencing repeated pregnancy losses. , 1990, Human reproduction.

[397]  A. Rodewald,et al.  Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity. , 2000, American journal of medical genetics.

[398]  J. Nielsen,et al.  Incidence of chromosome aberrations among 11 148 newborn children , 1975, Humangenetik.

[399]  I. Simonic,et al.  Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin , 2007, European Journal of Human Genetics.

[400]  R. Hochstenbach,et al.  Diploid/triploid mosaicism in dysmorphic patients , 2002, Clinical genetics.

[401]  R. Kapur,et al.  Prenatal diagnosis of tetraploidy: a case report. , 1993, American journal of medical genetics.

[402]  M. Mikkelsen,et al.  Risk for chromosome abnormality at amniocentesis following a child with a non‐inherited chromosome aberration a european collaborative study on prenatal diagnoses 1981 , 1984, Prenatal diagnosis.

[403]  K. McElreavey,et al.  X-Y translocations and sex differentiation. , 2001, Seminars in reproductive medicine.

[404]  C. Sismani,et al.  Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis. , 2007, European journal of medical genetics.

[405]  M. McDonald,et al.  Triploid mosaicism in a 45,X/69,XXY infant , 2005, American journal of medical genetics. Part A.

[406]  Satoshi O. Suzuki,et al.  Prenatal diagnosis of trisomy 16 mosaicism manifested as pulmonary artery stenosis , 2009, Journal of clinical ultrasound : JCU.

[407]  K. Kagan,et al.  Nasal bone in first-trimester screening for trisomy 21. , 2006, American journal of obstetrics and gynecology.

[408]  A. Beaufrère,et al.  Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype , 2005, Prenatal diagnosis.

[409]  S. Schwartz,et al.  Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history , 2004, Human Genetics.

[410]  J. Egan,et al.  Expected performance of second trimester maternal serum testing followed by a ‘genetic sonogram’ in screening of fetal Down syndrome , 2008, Prenatal diagnosis.

[411]  T. Perlis,et al.  Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. , 1987, American journal of medical genetics.

[412]  Y. Ville,et al.  Trisomy 10: first‐trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[413]  P. Riis,et al.  Antenatal Sex Determination , 1956, Nature.

[414]  B. Crandall,et al.  INCIDENCE AND SIGNIFICANCE OF CHROMOSOME MOSAICISM INVOLVING AN AUTOSOMAL STRUCTURAL ABNORMALITY DIAGNOSED PRENATALLY THROUGH AMNIOCENTESIS: A COLLABORATIVE STUDY , 1996, Prenatal diagnosis.

[415]  A. Fryer,et al.  Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate , 1995, Clinical genetics.

[416]  W. Robinson,et al.  Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies. , 2002, American journal of medical genetics.

[417]  L. Bird,et al.  122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20. , 2006, Journal of Investigative Medicine.

[418]  C. Stoll,et al.  Omphalocele and gastroschisis and associated malformations , 2008, American journal of medical genetics. Part A.

[419]  G. Pilu,et al.  DISTRIBUTION OF ABNORMAL KARYOTYPES AMONG MALFORMED FETUSES DETECTED BY ULTRASOUND THROUGHOUT GESTATION , 1996, Prenatal diagnosis.

[420]  A. König,et al.  Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism. , 1999, American journal of medical genetics.

[421]  L. Laurino,et al.  Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome , 2007, Journal of Medical Genetics.

[422]  N. Niikawa,et al.  Anatomic and chromosomal anomalies in 639 spontaneous abortuses , 2004, Human Genetics.

[423]  W. Persutte,et al.  Failure of amniotic-fluid-cell growth: is it related to fetal aneuploidy? , 1995, The Lancet.

[424]  C. Liao,et al.  A 46,XY/46,XX mosaicism diagnosed at amniocentesis: another case report , 2008, Prenatal diagnosis.

[425]  W. Sepulveda,et al.  Amniotic fluid culture failure: clinical significance and association with aneuploidy , 1996, Obstetrics and gynecology.

[426]  Chih-ping Chen,et al.  Neonatal outcome of a prenatally detected 46,XX/46,XY true hermaphrodite , 2006, Prenatal diagnosis.

[427]  L. Bovicelli,et al.  Prenatal diagnosis of a heterochromatic 18p+ heteromorphism , 1994, Prenatal diagnosis.

[428]  I. Bartels,et al.  Normal Outcome of a Pregnancy with Mosaicism for Double Trisomy in Amniotic Fluid cells , 1997, Prenatal diagnosis.

[429]  C. Strom,et al.  Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype , 1992, Journal of Assisted Reproduction and Genetics.

[430]  D. Kotzot Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. , 2002, American journal of medical genetics.

[431]  P. Benn Trisomy 16 and trisomy 16 Mosaicism: a review. , 1998, American journal of medical genetics.

[432]  H. Landy,et al.  The "vanishing twin": ultrasonographic assessment of fetal disappearance in the first trimester. , 1986, American journal of obstetrics and gynecology.

[433]  S. Esperante,et al.  Supernumerary marker 15 chromosome in a patient with Prader–Willi syndrome , 2004, Clinical genetics.

[434]  K. Nicolaides,et al.  Maternal serum free β‐hCG and PAPP‐A in fetal sex chromosome defects in the first trimester , 2000, Prenatal diagnosis.

[435]  E. Garne,et al.  Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe , 2001, Prenatal diagnosis.

[436]  D. Lockwood,et al.  PRENATAL CYTOGENETIC RESULTS FROM CASES REFERRED FOR 44 DIFFERENT TYPES OF ABNORMAL ULTRASOUND FINDINGS , 1996, Prenatal diagnosis.

[437]  J. G. Lauritsen Aetiology of Spontaneous Abortion , 1976 .

[438]  J. Crolla,et al.  Distribution of the D15Z1 copy number polymorphism , 2007, European Journal of Human Genetics.

[439]  J. Yates,et al.  Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses , 1984, Prenatal diagnosis.

[440]  M. Mikkelsen,et al.  The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987 , 1989, Prenatal diagnosis.

[441]  F. Klumper,et al.  A near false‐negative finding of mosaic trisomy 21—a cautionary tale , 1998, Prenatal diagnosis.

[442]  E. Hook,et al.  Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20 000 prenatal studies compared with estimated rates in live births , 2004, Human Genetics.

[443]  B. Dallapiccola,et al.  The 18ph+ chromosome heteromorphism , 1994, Prenatal diagnosis.

[444]  J. Egan,et al.  Antenatal Down syndrome screening in the United States in 2001: a survey of maternal-fetal medicine specialists. , 2002, American journal of obstetrics and gynecology.

[445]  T. Shipp,et al.  The sonographic diagnosis of Dandy–Walker and Dandy–Walker variant: associated findings and outcomes , 2000, Prenatal diagnosis.

[446]  G. B. Schaefer,et al.  Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype. , 1991, American journal of medical genetics.

[447]  J. Hoffman,et al.  The incidence of congenital heart disease. , 2002, Journal of the American College of Cardiology.

[448]  Garver Kl,et al.  LETTER: Amniotic-fluid-culture failure: possible role of syringes. , 1976 .

[449]  F. Malone,et al.  First-Trimester Septated Cystic Hygroma: Prevalence, Natural History, and Pediatric Outcome , 2005, Obstetrics and gynecology.

[450]  S. Fallet,et al.  Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature , 1998, Clinical genetics.

[451]  S. Antonarakis,et al.  DNA polymorphism analysis in families with recurrence of free trisomy 21. , 1992, American journal of human genetics.

[452]  C. Lin,et al.  Cytogenetic studies in spontaneous abortion: the Calgary experience. , 1985, Canadian journal of genetics and cytology. Journal canadien de genetique et de cytologie.

[453]  Quanhe Yang,et al.  Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome. , 2000, American journal of human genetics.

[454]  B. Kerem,et al.  An interstitial nucleolus organizer region in the long arm of human chromosome 7: cytogenetic characterization and familial segregation , 1998, Cytogenetic and Genome Research.

[455]  L. Stuppia,et al.  Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis , 2004, American journal of medical genetics. Part A.

[456]  A. Benachi,et al.  Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report. , 2007, Human reproduction.

[457]  G. Mielke,et al.  Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood , 1997, Clinical genetics.

[458]  J. Egan,et al.  Efficacy of Screening for Fetal Down Syndrome in the United States From 1974 to 1997 , 2000, Obstetrics and gynecology.

[459]  E. Castilla,et al.  Is there a familial link between Down's syndrome and neural tube defects? Population and familial survey , 2003, BMJ : British Medical Journal.

[460]  C. Philippe,et al.  Prenatal diagnosis of mosaicism for 11q terminal deletion. , 2007, European journal of medical genetics.

[461]  V. Park,et al.  The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. , 1992, American journal of human genetics.

[462]  James Jeffery Morrison,et al.  Ultrasound detection and perinatal outcome of fetal trisomies 21, 18 and 13 in the absence of a routine fetal anomaly scan or biochemical screening , 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[463]  M. Shohat,et al.  Amniotic trisomy 11 mosaicism—is it a benign finding? , 2006, Prenatal diagnosis.

[464]  A. Boué,et al.  A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses , 1984, Prenatal diagnosis.

[465]  P. Soothill,et al.  Gastroschisis—an overview , 2002, Prenatal diagnosis.

[466]  N. Niikawa,et al.  Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause , 2006, American journal of medical genetics. Part A.

[467]  W. Holzgreve,et al.  Chromosome analyses from urinary sediment: postnatal confirmation of a prenatally diagnosed trisomy 20 mosaicism. , 1989, The New England journal of medicine.

[468]  K. Ohama,et al.  Anatomic and chromosomal anomalies in 944 induced abortuses , 1978, Human Genetics.

[469]  P. Roberts,et al.  Inv(10)(p11.2q21.2), a variant chromosome , 1997, Human Genetics.

[470]  J. Egan,et al.  Absent or Shortened Nasal Bone Length and the Detection of Down Syndrome in Second-Trimester Fetuses , 2007, Obstetrics and gynecology.

[471]  A. Munnich,et al.  Prenatal diagnosis of a satellited non‐acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature , 1999, Prenatal diagnosis.

[472]  L. Taine,et al.  Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases , 2004, Prenatal diagnosis.

[473]  Chih-ping Chen,et al.  Prenatal diagnosis of low‐level mosaic trisomy 7 by amniocentesis , 2005, Prenatal diagnosis.

[474]  H. Saal,et al.  Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review , 1988, Clinical genetics.

[475]  M. Schmidt,et al.  Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. , 1992, American journal of medical genetics.

[476]  J. Simpson,et al.  Isolated echogenic foci in the fetal heart as marker of chromosomal abnormality , 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[477]  L. Shaffer,et al.  Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. , 2000, American journal of human genetics.

[478]  J. Stene,et al.  Experiences with risk estimates for carriers of chromosomal reciprocal translocations , 1992, Clinical genetics.

[479]  M. Thangavelu,et al.  Supernumerary marker chromosomes detected in 100 000 prenatal diagnoses: molecular cytogenetic studies and clinical significance , 2006, Prenatal diagnosis.

[480]  E. Zackai,et al.  Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families. , 1984, American journal of medical genetics.

[481]  R. Lilford,et al.  Assessment and management of fetal agenesis of the corpus callosum , 1995, Prenatal diagnosis.

[482]  P. Benn,et al.  X-chromosome abnormalities in women with premature ovarian failure. , 1999, The Journal of reproductive medicine.

[483]  D. Miller,et al.  Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. , 1992, American journal of medical genetics.

[484]  V. Tonk,et al.  Atlas of Human Chromosome Heteromorphisms , 2004, Springer Netherlands.

[485]  Quanhe Yang,et al.  Autosomal trisomy and maternal use of multivitamin supplements , 2004, American journal of medical genetics. Part A.

[486]  S. Phadke,et al.  Prenatally diagnosed trisomy 6 mosaicism , 2004, Prenatal diagnosis.

[487]  Familial occurrence of chromosome variant 17ph+ , 1977, Clinical genetics.

[488]  R. Kinch,et al.  Chromosome aberrations in 2159 consecutive newborn babies. , 1969, The New England journal of medicine.

[489]  R. Pauli,et al.  Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine deaths. , 1994, American journal of medical genetics.

[490]  P. Cavalli,et al.  Prenatal diagnosis of X chromosome monosomy , 2006, Prenatal diagnosis.

[491]  K. Zerres,et al.  Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases. , 2004, Genetic counseling.

[492]  L. Mazzanti,et al.  Gonadoblastoma in Turner syndrome and Y‐chromosome‐derived material , 2005, American journal of medical genetics. Part A.

[493]  P. Kaiser Pericentric inversions , 2004, Human Genetics.

[494]  U. Surti,et al.  Variable outcomes in mosaic trisomy 16: five case reports and literature analysis , 2006, Prenatal diagnosis.

[495]  F. Bianchi,et al.  Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries , 2000, Prenatal diagnosis.

[496]  J. Fryns,et al.  A new centromeric heteromorphism in the short arm of chromosome 20. , 1988, Journal of medical genetics.

[497]  S. Kaffe,et al.  A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases , 1991, Prenatal diagnosis.

[498]  A. Yajima,et al.  Risk of Recurrence of Fetal Chromosomal Aberrations: Analysis of Trisomy 21, Trisomy 18, Trisomy 13, and 45,X in 1,076 Japanese Mothers , 1999, The journal of obstetrics and gynaecology research.

[499]  J. Crolla,et al.  Chromosome constitution of 500 infants dying during the perinatal period , 1974, Humangenetik.

[500]  M. Pardo,et al.  Tetraploidy in a liveborn infant. , 1976, Journal of medical genetics.

[501]  G. Spowart,et al.  Forty four probands with an additional “marker” chromosome , 2004, Human Genetics.

[502]  E. Lemyre,et al.  Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus , 2006, American journal of medical genetics. Part A.

[503]  P. Gallagher,et al.  Cystic hygroma in the fetus and newborn. , 1999, Seminars in perinatology.

[504]  T. Liehr,et al.  Small supernumerary marker chromosomes (sSMC) in humans , 2004, Cytogenetic and Genome Research.

[505]  J. Geraedts,et al.  Mosaic tetraploidy in a male neonate , 1982, Clinical genetics.

[506]  D. Kalousek Pathogenesis of chromosomal mosaicism and its effect on early human development. , 2000, American journal of medical genetics.

[507]  B. Brambati,et al.  Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy , 2004, Human Genetics.

[508]  M. Spence,et al.  Mental retardation associated with "balanced" chromosome rearrangements. , 1977, American journal of human genetics.

[509]  Stewart Gt,et al.  Letter: Whooping-cough vaccination. , 1976 .

[510]  E. Sala,et al.  Fetal trisomy 5 mosaicism: Case report and literature review , 2007, American journal of medical genetics. Part A.

[511]  P. Fernhoff,et al.  Mosaic trisomy 4: Long‐term outcome on the first reported liveborn , 2005, American journal of medical genetics. Part A.

[512]  L. Shaffer,et al.  Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens , 2008, Prenatal diagnosis.

[513]  V. Cararach,et al.  Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy , 2003, Prenatal diagnosis.

[514]  B. Kousseff,et al.  Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies , 1988, Clinical Genetics.

[515]  F. Menko,et al.  Intrachromosomal insertions: a case report and a review , 1992, Human Genetics.

[516]  M. Schmid,et al.  Characterization of a Y/15 translocation by banding methods, distamycin A treatment of lymphocytes and DNA restriction endonuclease analysis , 1983, Clinical genetics.

[517]  P. Lapunzina,et al.  A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings , 2004, American journal of medical genetics. Part A.

[518]  M. Fichera,et al.  Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients , 2007, Journal of Medical Genetics.

[519]  L. Willatt,et al.  X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits , 2008, Journal of Medical Genetics.

[520]  T. Liehr,et al.  Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. , 2007, International journal of molecular medicine.

[521]  J. Corteville,et al.  Fetal Pyelectasis and Down Syndrome: Is Genetic Amniocentesis Warranted? , 1992, Obstetrics and gynecology.

[522]  J. Crolla,et al.  Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited , 2005, European Journal of Human Genetics.

[523]  H. Stewart,et al.  Cryptic mosaicism for monosomy 20 identified in renal tract cells , 2006, Clinical genetics.

[524]  D. Wieczorek,et al.  Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype , 2003, Prenatal diagnosis.