A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation

Acta Genet Med Gemellol (Roma). 1996;45(1-2):255-61. doi: 10.1017/s0001566000001410.


A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

Publication types

  • Case Reports

MeSH terms

  • Angelman Syndrome / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 15*
  • Genomic Imprinting*
  • Humans
  • Male
  • Pedigree
  • Translocation, Genetic*