Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome

Am J Med Genet. 1993 Mar 1;45(5):625-30. doi: 10.1002/ajmg.1320450522.


Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also showed the patient to be homozygous at all loci for which the father was heterozygous, suggesting that the structural rearrangement was an isochromosome 15q and not a Robertsonian translocation.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 15*
  • DNA / genetics
  • Genetic Markers
  • Homozygote
  • Humans
  • Male
  • Phenotype
  • Translocation, Genetic*


  • Genetic Markers
  • DNA