Document Detail

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.
MedLine Citation:
PMID:  20101685     Owner:  NLM     Status:  MEDLINE    
The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.
N Guediche; S Brisset; J-J Benichou; N Gu?rin; P Mabboux; M-L Maurin; C Bas; M Laroudie; O Picone; D Goldszmidt; S Pr?vot; P Labrune; G Tachdjian
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  152A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-02-01     Completed Date:  2010-04-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  464-71     Citation Subset:  IM    
Copyright Information:
Copyright 2010 Wiley-Liss, Inc.
Univ Paris-Sud, Service d'Histologie Embryologie et Cytog?n?tique, APHP, H?pital Antoine B?cl?re, Clamart, France.
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MeSH Terms
Chromosome Aberrations*
Chromosome Disorders / genetics*
Chromosomes, Human, Pair 20 / genetics*,  ultrastructure*
In Situ Hybridization, Fluorescence
Lymphocytes / metabolism
Models, Genetic
Prenatal Diagnosis
Ring Chromosomes*

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