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.

journal_name

Ann Med

journal_title

Annals of medicine

authors

Mannens M,Alders M

doi

10.3109/07853899909019258

subject

Has Abstract

pub_date

1999-02-01 00:00:00

pages

4-11

issue

1

eissn

0785-3890

issn

1365-2060

journal_volume

31

pub_type

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