title: Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
abstract: Chromosomal imbalances, recognized as the major cause of mental retardation (MR), are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. Array-based comparative genomic hybridization (array-CGH) improves considerably the detection rate of submicroscopic chromosomal abnormalities and has proven to be an effective tool for detection of submicroscopic chromosome abnormalities in children with MR and/or multiple congenital defects. Observations of array-CGH deletions in defined chromosomal regions linked to a clinical phenotype will more and more allow to define genotype-phenotype correlations. We report here the case of a 10-year-old female with a de novo 7.8 Mb deletion in the 6q13-6q14.1 ascertained by array-CGH. The clinical features of this patient include psychomotor and language delay associated with minor dysmorphic features.
authors.affiliation: Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambery Cedex, France.
authors.forename: James
authors.initials: J
authors.lastname: Lespinasse
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.forename: Frédérique
authors.initials: F
authors.lastname: Béna
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: François
authors.initials: F
authors.lastname: Ansermet
authors.forename: Ariane
authors.initials: A
authors.lastname: Paoloni-Giacobino
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D055028:Comparative Genomic Hybridization; D005260:Female; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007805:Language Development Disorders / Q000235:genetics*; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics