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.


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*