title: A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.
abstract: The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried a paternally derived interstitial duplication involving 15q11-13. The proband showed evidence of ASD (PDD-NOS), borderline mental retardation, mild hypotonia and joint laxity. Her father and her sister were of normal intelligence and neither was thought to have an ASD, although speech/language difficulties and some autistic type behaviours were reported to have been present early in the development of the sister. This is one of the first reports of a child with a paternal duplication and an autism spectrum disorder. More research is required to determine whether paternally derived duplications that involve 15q11-13 are associated with developmental impairments.
authors.affiliation: Developmental Psychiatry Section, University of Cambridge, Cambridge, UK. mwmv2@cam.ac.uk
authors.forename: Marijcke W M
authors.initials: MW
authors.lastname: Veltman
authors.forename: Russell J
authors.initials: RJ
authors.lastname: Thompson
authors.forename: Ellen E
authors.initials: EE
authors.lastname: Craig
authors.forename: Nicholas R
authors.initials: NR
authors.lastname: Dennis
authors.forename: Sian E
authors.initials: SE
authors.lastname: Roberts
authors.forename: Vanessa
authors.initials: V
authors.lastname: Moore
authors.forename: Josie A
authors.initials: JA
authors.lastname: Brown
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Bolton
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D020131:Genes, Duplicate / Q000235:genetics*; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009483:Neuropsychological Tests; D010375:Pedigree; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*