Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome |
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| Authors: | A Smith Z -M Deng R Beran T Woodage R J Trent |
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| Institution: | (1) Cytogenetics Unit, Department of Genetics, Children's Hospital, Camperdown, NSW, Australia;(2) Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia;(3) Lachlan Centre, North Ryde, NSW, Australia;(4) Cytogenetics Unit, Department of Genetics, The Children's Hospital, 2050 Camperdown, NSW, Australia |
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| 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. |
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