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Beckwith–Wiedemann syndrome

✍ Scribed by Rosanna Weksberg; Cheryl Shuman; Adam C. Smith

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
302 KB
Volume
137C
Category
Article
ISSN
1552-4868

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✦ Synopsis

Abstract

Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic alterations within two domains of imprinted growth regulatory genes on human chromosome 11p15. Molecular studies of BWS have provided important data with respect to epigenotype/genotype–phenotype correlations; for example, alterations of Domain 1 are associated with the highest risk for tumor development, specifically Wilms' tumor. Further, the elucidation of the molecular basis for monozygotic twinning in BWS defined a critical period for imprint maintenance during pre‐implantation embryonic development. In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling. © 2005 Wiley‐Liss, Inc.

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