title: Array-CGH in children with mild intellectual disability: a population-based study.
abstract: Intellectual disability (ID) is characterized by limitation in intellectual function and adaptive behavior, with onset in childhood. Frequent identifiable causes of ID originate from chromosomal imbalances. During the last years, array-CGH has successfully contributed to improve the diagnostic detection rate of genetic abnormalities in patients with ID. Most array-CGH studies focused on patients with moderate or severe intellectual disability. Studies on genetic etiology in children with mild intellectual disability (ID) are very rare. We performed array-CGH analysis in 66 children with mild intellectual disability assessed in a population-based study and for whom no genetic etiology was identified. We found one or more copy number variations (CNVs) in 20 out of 66 (~30 %) patients with a mild ID. In eight of them (~12 %), the CNVs were certainly responsible for the phenotype and in six they were potentially pathogenic for ID. Altogether, array-CGH helped to determine the etiology of ID in 14 patients (~21 %).
  
  
  CONCLUSIONS
  Our results underscore the clinical relevance of array-CGH to investigate the etiology of isolated idiopathic mild ID in patients or associated with even subtle dysmorphic features or congenital malformations.
authors.affiliation: Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, 38700, Grenoble, France, CCoutton@chu-grenoble.fr.
authors.forename: Charles
authors.initials: C
authors.lastname: Coutton
authors.forename: Klaus
authors.initials: K
authors.lastname: Dieterich
authors.forename: Véronique
authors.initials: V
authors.lastname: Satre
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Vieville
authors.forename: Florence
authors.initials: F
authors.lastname: Amblard
authors.forename: Marie
authors.initials: M
authors.lastname: David
authors.forename: Christine
authors.initials: C
authors.lastname: Cans
authors.forename: Pierre-Simon
authors.initials: PS
authors.lastname: Jouk
authors.forename: Francoise
authors.initials: F
authors.lastname: Devillard
mesh_terms: D000293:Adolescent; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D008297:Male; D040081:Protein Array Analysis / Q000379:methods