title: Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.
abstract: Various developmental abnormalities can give rise to the clinical syndrome of autism, and some are due to chromosomal anomalies. One syndrome has been identified in which behavioural disorder is associated with the clinical features of epilepsy and ataxia, and with the chromosomal anomaly of an extra marker chromosome containing a duplication of 15q11-13. The authors report a boy with autism, epilepsy, ataxia and an interstitial duplication of 15q, in whom molecular analysis reveals duplication of the GABRA5 and GABRB3 genes on the maternally derived chromosome.
authors.affiliation: Clinical Genetics Unit, Birmingham Maternity Hospital, UK.
authors.forename: S
authors.initials: S
authors.lastname: Bundey
authors.forename: C
authors.initials: C
authors.lastname: Hardy
authors.forename: S
authors.initials: S
authors.lastname: Vickers
authors.forename: M W
authors.initials: MW
authors.lastname: Kilpatrick
authors.forename: J A
authors.initials: JA
authors.lastname: Corbett
mesh_terms: D001259:Ataxia / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000032:analysis; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D005810:Multigene Family; D010375:Pedigree
chemical_list: D004247:DNA