title: Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
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.
authors.affiliation: Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France. sylvie.jaillard@chu-rennes.fr
authors.forename: Sylvie
authors.initials: S
authors.lastname: Jaillard
authors.forename: Séverine
authors.initials: S
authors.lastname: Drunat
authors.forename: Claude
authors.initials: C
authors.lastname: Bendavid
authors.forename: Azzedine
authors.initials: A
authors.lastname: Aboura
authors.forename: Amandine
authors.initials: A
authors.lastname: Etcheverry
authors.forename: Hubert
authors.initials: H
authors.lastname: Journel
authors.forename: Andrée
authors.initials: A
authors.lastname: Delahaye
authors.forename: Laurent
authors.initials: L
authors.lastname: Pasquier
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Lydie
authors.initials: L
authors.lastname: Burglen
authors.forename: Agnès
authors.initials: A
authors.lastname: Guichet
authors.forename: Eva
authors.initials: E
authors.lastname: Pipiras
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
authors.forename: Dominique
authors.initials: D
authors.lastname: Martin-Coignard
authors.forename: Catherine
authors.initials: C
authors.lastname: Henry
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Josette
authors.initials: J
authors.lastname: Lucas
authors.forename: Jean
authors.initials: J
authors.lastname: Mosser
authors.forename: Véronique
authors.initials: V
authors.lastname: David
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Christèle
authors.initials: C
authors.lastname: Dubourg
mesh_terms: D002874:Chromosome Mapping; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D005602:France; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D009841:Oligonucleotides / Q000235:genetics; D015203:Reproducibility of Results; D013577:Syndrome
chemical_list: D009841:Oligonucleotides