title: A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13.
abstract: A child with Angelman syndrome, cutis aplasia, cleft palate, and congenital microform cleft lip, born to a father with a Robertsonian translocation 13;15 is described. Molecular studies using polymorphic markers on chromosomes 15 and 13 showed paternal uniparental disomy (UPD) 15 and segmental UPD 13.
authors.affiliation: Department of Pediatrics, Division of Genetics and Metabolism, The Children's Hospital, University of Colorado Health Sciences Center, 1056 E. 19th Avenue, B300, Denver, CO 80218, USA. Tsai.chun-hui@tchden.org
authors.forename: Anne Chun-Hui
authors.initials: AC
authors.lastname: Tsai
authors.forename: Tamra
authors.initials: T
authors.lastname: Gibby
authors.forename: Linda
authors.initials: L
authors.lastname: Beischel
authors.forename: Loris
authors.initials: L
authors.lastname: McGavran
authors.forename: John P
authors.initials: JP
authors.lastname: Johnson
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D014314:Trisomy; D024182:Uniparental Disomy
chemical_list: D005819:Genetic Markers