A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13.
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.
Tsai
Anne Chun-Hui
AC
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
Gibby
Tamra
T
Beischel
Linda
L
McGavran
Loris
L
Johnson
John P
JP
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
D005819:Genetic Markers