Document Detail


Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.
MedLine Citation:
PMID:  20635336     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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.
Authors:
Caroline Rooryck; Noui Souakri; Dorothée Cailley; Julie Bouron; Cyril Goizet; Marie-Ange Delrue; Sandrine Marlin; Feclad Didier Lacombe; Benoît Arveiler
Related Documents :
12800146 - Genomic imbalances in cml blast crisis: 8q24.12-q24.13 segment identified as a common r...
19522846 - Comparative genome hybridization analysis of laser-capture microdissected in situ melan...
16007576 - Tp53 mutations are associated with a particular pattern of genomic imbalances in breast...
9787076 - Amplification of dna sequences from chromosome 19q13.1 in human pancreatic cell lines.
23900276 - Genome instability and embryonic developmental defects in rmi1 deficient mice.
15062786 - Molecular and cytogenetic evidence for cryptic speciation within a rare endemic malagas...
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    
Affiliation:
Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France. carolinethambo@hotmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the pal...
Next Document:  Twins with omphalocele in Denmark (1970-1989).