title: Uniparental paternal disomy in Angelman's syndrome.
abstract: Angelman's syndrome and Prader-Willi syndrome are both causes of mental retardation with recognisable, but quite different, clinical phenotypes. Both are associated with deletions of chromosome 15q11-13, of maternal origin in Angelman's and paternal in Prader-Willi. Prader-Willi can arise by inheritance of two chromosomes 15 from the mother and none from the father (uniparental maternal disomy). In 2 patients with Angelman's syndrome we found evidence of uniparental paternal disomy. The phenotypic effects of maternal and paternal disomy of chromosome 15 are very different and inheritance of two normal 15s from one parent does not lead to normal development--strong evidence in man for genomic imprinting, in which the same gene has different effects dependent upon its parental origin.
authors.affiliation: Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: M
authors.initials: M
authors.lastname: Nichols
authors.forename: S
authors.initials: S
authors.lastname: Robb
authors.forename: T
authors.initials: T
authors.lastname: Webb
authors.forename: J A
authors.initials: JA
authors.lastname: Armour
authors.forename: A J
authors.initials: AJ
authors.lastname: Jeffreys
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D015342:DNA Probes; D004569:Electroencephalography; D005145:Face / Q000002:abnormalities*; D005220:Fathers; D005260:Female; D015698:Genomic Library; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008297:Male; D009035:Mothers; D010641:Phenotype; D012008:Recurrence; D013577:Syndrome
chemical_list: D015342:DNA Probes