Details

Autor(en) / Beteiligte

• Weksberg, Rosanna
• Shuman, Cheryl
• Smith, Adam C.

Titel

Beckwith-Wiedemann syndrome

Ist Teil von

• American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.12-23

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2005

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.