Translocations in Prader-Willi syndrome

Clin Genet. 1983 Apr;23(4):304-7. doi: 10.1111/j.1399-0004.1983.tb01881.x.

Abstract

The Prader-Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11-q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12[45, XX,t(11;15)(q25;q11-12)], resulting in the deletion of 15pter leads to 15q11-q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the "deletion hypothesis."

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion
  • Chromosomes, Human, 13-15*
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Prader-Willi Syndrome / genetics*
  • Translocation, Genetic*