Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

doi:10.1016/j.ejmg.2009.10.002

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Article

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

European journal of medical genetics - 1 Jan 2000

Jaillard Sylvie, Drunat Séverine, Bendavid Claude, Aboura Azzedine, Etcheverry Amandine, Journel Hubert, Delahaye Andrée, Pasquier Laurent, Bonneau Dominique, Toutain Annick, Burglen Lydie, Guichet Agnès, Pipiras Eva, Gilbert-Dussardier Brigitte, Benzacken Brigitte, Martin-Coignard Dominique, Henry Catherine, David Albert, Lucas Josette, Mosser Jean, David Véronique, Odent Sylvie, Verloes Alain, Dubourg Christèle

Abstract excerpt

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...

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PMID: 19878743
DOI: 10.1016/j.ejmg.2009.10.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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