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Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome
1Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.
Human Genetics
|April 1, 1994
Abstract:
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.