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

A Smith; Z M Deng; R Beran; T Woodage; R J Trent

doi:10.1007/BF00201679

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

Hum Genet. 1994 Apr;93(4):471-3. doi: 10.1007/BF00201679.

Authors

A Smith¹, Z M Deng, R Beran, T Woodage, R J Trent

Affiliation

¹ Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.

PMID: 8168819
DOI: 10.1007/BF00201679

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Angelman Syndrome / genetics*
Chromosomes, Human, Pair 15*
Chromosomes, Human, Pair 8*
Female
Humans
Male
Pedigree
Translocation, Genetic*