| Literature DB >> 19878743 |
Sylvie Jaillard1, Séverine Drunat, Claude Bendavid, Azzedine Aboura, Amandine Etcheverry, Hubert Journel, Andrée Delahaye, Laurent Pasquier, Dominique Bonneau, Annick Toutain, Lydie Burglen, Agnès Guichet, Eva Pipiras, Brigitte Gilbert-Dussardier, Brigitte Benzacken, Dominique Martin-Coignard, Catherine Henry, Albert David, Josette Lucas, Jean Mosser, Véronique David, Sylvie Odent, Alain Verloes, Christèle Dubourg.
Abstract
Array-CGH has revealed a large number of copy number variations (CNVs) in patients with multiple congenital anomalies and/or mental retardation (MCA/MR). According to criteria recently listed, pathogenicity was clearly suspected for some CNVs but benign CNVs, considered as polymorphisms, have complicated the interpretation of the results. In this study, genomic DNAs from 132 French patients with unexplained mental retardation were analysed by genome wide high-resolution Agilent 44K oligonucleotide arrays. The results were in accordance with those observed in previous studies: the detection rate of pathogenic CNVs was 14.4%. A non-random involvement of several chromosomal regions was observed. Some of the microimbalances recurrently involved regions (1q21.1, 2q23.1, 2q32q33, 7p13, 17p13.3, 17p11.2, 17q21.31) corresponding to known or novel syndromes. For all the pathogenic CNVs, further cases are needed to allow more accurate genotype-phenotype correlations underscoring the importance of databases to group patients with similar molecular data. Copyright 2009 Elsevier Masson SAS. All rights reserved.Entities:
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Year: 2009 PMID： 19878743 DOI： 10.1016/j.ejmg.2009.10.002
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708