Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview

Am J Med Genet. 1993 Apr 1;46(1):2-6. doi: 10.1002/ajmg.1320460103.

Abstract

The majority of patients with Angelman syndrome and Prader-Willi syndrome have a cytogenetic and molecular deletion of chromosome 15q11q13 with the primary difference being in the parental origin of deletion. Our current understanding of the cytogenetics and molecular genetics of these 2 clinically distinct syndromes will be discussed in this review.

Publication types

  • Review

MeSH terms

  • Angelman Syndrome / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • Female
  • Humans
  • Male
  • Prader-Willi Syndrome / genetics*
  • Receptors, GABA-A / genetics

Substances

  • Receptors, GABA-A