Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities

Curr Opin Neurol. 1999 Apr;12(2):149-54. doi: 10.1097/00019052-199904000-00004.

Abstract

Significant advances have been made in determining the genetic basis of the Prader-Willi and Angelman syndromes; disorders in which genomic imprinting is abnormal. These advances will be instrumental in unravelling the pathogenesis that underlies these neurobehavioural disorders.

Publication types

  • Review

MeSH terms

  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics*
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 15*
  • Family Health
  • Gene Deletion
  • Genomic Imprinting / physiology*
  • Humans
  • Phenotype
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Risk Assessment