Prader Willi and Angelman syndromes: exemplars of genomic imprinting

J Perinat Neonatal Nurs. 1999 Sep;13(2):76-89. doi: 10.1097/00005237-199909000-00007.

Abstract

The molecular phenomenon genomic imprinting provides an explanation for why two clinically distinct syndromes share genetic etiologies. Increased understanding of genomic imprinting is affecting diagnostics. Use of improved diagnostic tests can enable early, syndrome-specific, and anticipatory interventions and consequently, improved quality of life; however, these tests are of little use unless clinicians are able to identify at-risk patients. Nurses knowledgeable about Prader Willi and Angelman syndromes and their associated genetic mechanisms can play a significant role in early identification, referral, and intervention of patients with these conditions.

Publication types

  • Review

MeSH terms

  • Angelman Syndrome / genetics*
  • Angelman Syndrome / nursing
  • Female
  • Gene Deletion
  • Genetic Counseling / methods
  • Genetic Testing / methods
  • Genomic Imprinting*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Neonatal Nursing
  • Nursing Assessment
  • Pedigree
  • Prader-Willi Syndrome / genetics*
  • Prader-Willi Syndrome / nursing
  • Referral and Consultation