Document Detail

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.
MedLine Citation:
PMID:  20635336     Owner:  NLM     Status:  In-Process    
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS.
Caroline Rooryck; Noui Souakri; Dorothée Cailley; Julie Bouron; Cyril Goizet; Marie-Ange Delrue; Sandrine Marlin; Feclad Didier Lacombe; Benoît Arveiler
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
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 Aug 
Date Detail:
Created Date:  2010-07-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1984-9     Citation Subset:  IM    
Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France.
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