Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.
A 29-year-old male with Angelman syndrome and an unbalanced reciprocal translocation, 45,XY,-8, -15, +der(8),t(8;15)(p23.3;q11)pat, was evaluated with DNA studies. These showed the underlying mechanism to be paternal uniparental disomy. This is the second case reported of Angelman syndrome that has resulted from a familial unbalanced reciprocal translocation.
Smith
A
A
Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.
Deng
Z M
ZM
Beran
R
R
Woodage
T
T
Trent
R J
RJ
D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic