Review Article: Genomic imprinting: concept and clinical consequences

Abstract

One of the major discoveries in modern genetics is the phenomenon of genomic, or parental, imprinting. The parent-of-origin effects seen after transmission of an imprinted gene from parents to their children do not follow the genetic rules postulated by Gregor Mendel. This has obvious consequences for genetic counselling. Aberrant imprinting can lead to a wide variety of clinical disorders ranging from the development of tumours to pronounced growth abnormalities and from mental retardation to developmental disorders of language or autism as seen in Turner's syndrome. Here we describe the basic principles of genomic imprinting and discuss a number of well-characterized clinical disorders associated with genomic imprinting.

Key Words:

• Angelman syndrome
• Beckwith-Wiedemann syndrome
• genomic imprinting
• Prader-Willi syndrome
• Silver-Russell syndrome
• tumour development
• Turner's syndrome
• uniparental disomy