Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review

[1]  Jesús M. Hernández,et al.  Ring chromosome 15 – cytogenetics and mapping arrays: a case report and review of the literature , 2018, Journal of Medical Case Reports.

[2]  C. Ferreira,et al.  Prenatal diagnosis of mosaic ring chromosome 16 - a rare event with uncertain prognosis , 2018 .

[3]  A. Menzorov,et al.  Ring chromosomes: from formation to clinical potential , 2018, Protoplasma.

[4]  K. Mehnert,et al.  Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature , 2017, American journal of medical genetics. Part A.

[5]  N. Sirisena,et al.  Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature , 2016, Case reports in genetics.

[6]  I. Mendilcioglu,et al.  A familial interstitial 4q35 deletion with no discernible clinical effects , 2015, American journal of medical genetics. Part A.

[7]  A. Manuel,et al.  Chromosome Aberrations in a Mexican Pediatric Hospital. Ring Chromosomes 4, 13 and 18 , 2014 .

[8]  A. Atay,et al.  Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4 , 2013, Case reports in obstetrics and gynecology.

[9]  N. Spinner,et al.  Mechanisms of ring chromosome formation, ring instability and clinical consequences , 2011, BMC Medical Genetics.

[10]  S. Patil,et al.  A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features , 2011, American journal of medical genetics. Part A.

[11]  S. Chern,et al.  Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay. , 2011, Genetic counseling.

[12]  B. Trueb Biology of FGFRL1, the fifth fibroblast growth factor receptor , 2011, Cellular and Molecular Life Sciences.

[13]  J. Vermeesch,et al.  Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay. , 2010, European journal of medical genetics.

[14]  Y. Juliano,et al.  Ring chromosome instability evaluation in six patients with autosomal rings. , 2010, Genetics and molecular research : GMR.

[15]  P. Barros-Núñez,et al.  Variegated-like mosaicism and ring syndrome in a r(4) boy. Appraisal of 38 patients with a fairly complete ring 4. , 2010, Genetic Counseling.

[16]  T. Liehr,et al.  Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy , 2009, American journal of medical genetics. Part A.

[17]  M. Roselló,et al.  Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion , 2009, Cytogenetic and Genome Research.

[18]  Sun-Hee Kim,et al.  [A case of mosaic ring chromosome 4 with subtelomeric 4p deletion]. , 2009, The Korean journal of laboratory medicine.

[19]  R. Cerini,et al.  Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion , 2008, European Journal of Human Genetics.

[20]  S. Gimelli,et al.  Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation , 2007, Journal of Medical Genetics.

[21]  R. Tenconi,et al.  Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome , 2007, Journal of Medical Genetics.

[22]  S. South,et al.  Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation , 2007, American journal of medical genetics. Part A.

[23]  Chih-ping Chen,et al.  Prenatal diagnosis of mosaic ring chromosome 4 , 2007, Prenatal diagnosis.

[24]  H. Tanke,et al.  Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion , 2007, European Journal of Human Genetics.

[25]  J. Vermeesch,et al.  Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies , 2006, American journal of medical genetics. Part A.

[26]  K. Hongo,et al.  A case report and review of the literature , 2006, Journal of Neuro-Oncology.

[27]  J. Mulvihill,et al.  Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay , 2005, American journal of medical genetics. Part A.

[28]  J. Kim,et al.  Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child , 2005, Cytogenetic and Genome Research.

[29]  L. Shaffer,et al.  Microduplication and triplication of 22q11.2: a highly variable syndrome. , 2005, American journal of human genetics.

[30]  G. Gimelli,et al.  Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability , 1993, Human Genetics.

[31]  A. Pérez-Castillo,et al.  Partial deletion of 4p16 band in a ring chromosome and wolf syndrome , 1978, Human Genetics.

[32]  A. Pérez-Castillo,et al.  Ring chromosome 4 and wolf syndrome , 1977, Human Genetics.

[33]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[34]  A. Winterpacht,et al.  Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints , 2002, Journal of medical genetics.

[35]  E. Jabs,et al.  Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. , 1999, American journal of medical genetics.

[36]  L. Jackson,et al.  Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. , 1997, American journal of medical genetics.

[37]  A. Giannotti,et al.  Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 → q35 and ring r (4) (pterq35.2‐qter) , 1997, Clinical genetics.

[38]  J. Hou,et al.  Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. , 1996, Journal of medical genetics.

[39]  M. Schmid,et al.  Ring chromosome 4 in a child with mild dysmorphic signs , 1991, Clinical genetics.

[40]  D. Sherer,et al.  Prenatal Diagnosis and Subsequent Management of a Fetus with a 46XY r(4)(p15-q35) Karyotype , 1991, American journal of perinatology.

[41]  M. Vekemans,et al.  Ring chromosome 4 in a child with duodenal atresia. , 1990, American journal of medical genetics.

[42]  C. Ayuso,et al.  Ring chromosome 6: clinical and cytogenetic behaviour. , 1990, American journal of medical genetics.

[43]  H. van den Berghe,et al.  Ring chromosome 4 mosaicism and Potter sequence. , 1988, Annales de genetique.

[44]  G. Corsello,et al.  [Ring chromosome 4 in twins]. , 1987, La Pediatria Medica e Chirurgica.

[45]  L. Wisniewski,et al.  Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy. , 1985, Klinische Pädiatrie.

[46]  G. Kosztolányi Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies. , 1985, Acta paediatrica Hungarica.

[47]  T. Chonmaitree,et al.  Ring 4 chromosome with terminal p and q deletions. , 1981, American journal of diseases of children.

[48]  D. Deligeorgis,et al.  The cytogenetic and clinical implications of a ring chromosome 2. , 1981, Annales de genetique.

[49]  E. Zalneraitis,et al.  Neurological and neuropathological findings in ring chromosome 4. , 1980, Journal of Medical Genetics.

[50]  T. Jenkins,et al.  Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm. , 1978, Journal of medical genetics.

[51]  A. Mcdermott,et al.  Ring chromosome 4. , 1977, Journal of medical genetics.

[52]  J. Couturier,et al.  [Ring of the chromosome 4. I - With 4p- phenotype]. , 1977, Annales de Genetique.

[53]  J. Limal,et al.  [Ring of the chromosome 4. II. Without facial dysmorphism]. , 1977, Annales de Genetique.

[54]  E. Passarge,et al.  Derivative chromosomal structures from a ring chromosome 4 , 1975, Human Genetics.

[55]  G. Donnell,et al.  A child with a ring-4 chromosome (46,XX-46,XX,r 4). , 1974, American journal of diseases of children.

[56]  R. Schmidt,et al.  Reduction malformations and chromosome anomalies. , 1973, American journal of diseases of children.

[57]  P. Conen,et al.  A ring-4 chromosome in a patient with normal intelligence and short stature. , 1971, Journal of medical genetics.

[58]  M. Bobrow,et al.  A complex chromosomal rearrangement with formation of a ring 4. , 1971, Journal of medical genetics.

[59]  A. Stewart,et al.  Chromosome abnormalities in two cases with bilateral radial element defects. , 1969, Journal of medical genetics.

[60]  E. Baker,et al.  Congenital malformations associated with a ring 4 chromosome. , 1969, Journal of medical genetics.