title: Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.
abstract: Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also showed the patient to be homozygous at all loci for which the father was heterozygous, suggesting that the structural rearrangement was an isochromosome 15q and not a Robertsonian translocation.
authors.affiliation: Department of Pediatrics, School of Medicine, Emory University, Atlanta, Georgia 30322.
authors.forename: S B
authors.initials: SB
authors.lastname: Freeman
authors.forename: K M
authors.initials: KM
authors.lastname: May
authors.forename: D
authors.initials: D
authors.lastname: Pettay
authors.forename: P M
authors.initials: PM
authors.lastname: Fernhoff
authors.forename: T J
authors.initials: TJ
authors.lastname: Hassold
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers; D004247:DNA