Genomic imprinting: implications for human disease

Am J Pathol. 1999 Mar;154(3):635-47. doi: 10.1016/S0002-9440(10)65309-6.


Genomic imprinting refers to an epigenetic marking of genes that results in monoallelic expression. This parent-of-origin dependent phenomenon is a notable exception to the laws of Mendelian genetics. Imprinted genes are intricately involved in fetal and behavioral development. Consequently, abnormal expression of these genes results in numerous human genetic disorders including carcinogenesis. This paper reviews genomic imprinting and its role in human disease. Additional information about imprinted genes can be found on the Genomic Imprinting Website at

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Angelman Syndrome / genetics
  • Beckwith-Wiedemann Syndrome / genetics
  • Behavior / physiology
  • Brain / growth & development
  • Brain / physiology
  • Genomic Imprinting* / physiology
  • Humans
  • Neoplasms / genetics
  • Prader-Willi Syndrome / genetics