Document Detail


Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant.
MedLine Citation:
PMID:  21989483     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without phenotypic effect. Polymorphisms of the size of heterochromatic centromeric regions of chromosomes 1, 9 and 16 have been well documented in humans but only four previous reports described centromeric polymorphism of chromosome 6. We present a prenatal diagnosis of a rare de novo centromeric chromosome 6 variant. Cytogenetic and molecular techniques were used to characterize this variant and confirm the de novo nature of this event. This case illustrates the importance of reporting unusual variant chromosomes for genetic counseling and for determination of the frequency of variant chromosomes in the general population.
Authors:
C Goumy; S Kemeny; E Eymard-Pierre; C Richard; L Gouas; P Combes; M Gay-Bellile; D Gallot; A Tchirkov; P Vago
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-10-1
Journal Detail:
Title:  Gene     Volume:  -     ISSN:  1879-0038     ISO Abbreviation:  -     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-10-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7706761     Medline TA:  Gene     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier B.V. All rights reserved.
Affiliation:
Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France; CNRS UMR6247 GReD, Clermont Université, Faculté de Médecine, Place Henri Dunant, 63 000 Clermont-Ferrand, France.
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