Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

[1]  K. Zerres,et al.  Maternal uniparental disomy 14 in a 15‐year‐old boy with normal karyotype and no evidence of precocious puberty , 2005, American journal of medical genetics. Part A.

[2]  D. Kalousek,et al.  Spontaneous abortion and confined chromosomal mosaicism , 1992, Human Genetics.

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

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

[5]  I. Temple,et al.  Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader–Willi syndrome , 2004, American journal of medical genetics. Part A.

[6]  G. Simoni,et al.  Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype , 1994, Human Genetics.

[7]  K. Zerres,et al.  Uniparental disomy: clinical indications for testing in growth retardation , 2002, European Journal of Pediatrics.

[8]  L. Shaffer,et al.  Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction , 2001, Prenatal diagnosis.

[9]  A. Munnich,et al.  Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up , 2000, Journal of medical genetics.

[10]  R. Brusati,et al.  Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas. , 2000, Cancer genetics and cytogenetics.

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

[12]  R. Hofstra,et al.  Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype , 1999, Journal of medical genetics.

[13]  G. Lowther,et al.  The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study , 1999, Prenatal diagnosis.

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

[15]  A. Schinzel,et al.  Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. , 1999, The Journal of pediatrics.

[16]  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.

[17]  A. Telenius,et al.  Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. , 1997, American journal of human genetics.

[18]  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.

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

[20]  J. Wolstenholme.  An audit of trisomy 16 in man , 1995, Prenatal diagnosis.

[21]  D. Kalousek,et al.  Genomic imprinting related to prenatal diagnosis , 1994, Prenatal diagnosis.

[22]  G. Simoni,et al.  Confined placental mosaicism , 1994, Prenatal diagnosis.

[23]  J. Wiley,et al.  Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey , 1994, Prenatal diagnosis.

[24]  C. Lundsteen,et al.  Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies , 1993, Prenatal diagnosis.

[25]  B. Wang,et al.  Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases , 1993, Prenatal diagnosis.

[26]  S. Langlois,et al.  Uniparental disomy for chromosome 16 in humans. , 1993, American journal of human genetics.

[27]  M. Vekemans,et al.  Annex 6: Chromosome mosaicism in CVS and amniocentesis samples , 1992 .

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

[29]  M. Vekemans,et al.  Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples. , 1992, Prenatal diagnosis.

[30]  M. Fraccaro,et al.  Does confined placental mosaicism affect the fetus? , 1992, Human reproduction.

[31]  E. Engel,et al.  Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. , 1991, American journal of medical genetics.

[32]  W. Holzgreve,et al.  Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies , 1991, Prenatal diagnosis.

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

[34]  S. Godfrey,et al.  Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? , 1989, American journal of human genetics.

[35]  D. Ledbetter,et al.  Uniparental disomy as a mechanism for human genetic disease. , 1988, American journal of human genetics.