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Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome

✍ Scribed by A. Smith; Z. -M. Deng; R. Beran; T. Woodage; R. J. Trent

Publisher: Springer
Year: 1994
Tongue: English
Weight: 778 KB
Volume: 93
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00201679

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✦ Synopsis

A 29-year-old male with Angelman syndrome and an unbalanced reciprocal translocation, 45,XY,-8, -15,+der(8),t(8;15)(p23.3;qll)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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