Chapter 8. The Beckwith-Wiedemann Syndrome (BWS)
Published Online: 19 MAR 2002
DOI: 10.1002/0471221937.ch8
Copyright © 2002 by Wiley-Liss, Inc.
Book Title
Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects
Additional Information
How to Cite
Engel, E. and Antonarakis, S. E. (2002) The Beckwith-Wiedemann Syndrome (BWS), in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch8
Publication History
- Published Online: 19 MAR 2002
- Published Print: 15 OCT 2001
ISBN Information
Print ISBN: 9780471351269
Online ISBN: 9780471221937
- Summary
- Chapter
Keywords:
- Beckwith-Wiedemann syndrome;
- macrosomia;
- macroglossia;
- gigantism;
- CDKN1C;
- KVLQT1;
- IGF2;
- H19;
- BWCR1;
- chromosome 11;
- 11p translocations
Summary
This chapter describes the phenotypic and etio-pathogenic complexities of the BWS, which is an exomphalos-macroglossia-gigantism syndrome with oncogenic risk. The different molecular defects, i.e. paternal UPD11, mutations in the CDKN1C gene, segmental paternal 11p chromosome duplications, and other rare abnormalities involving the 11p15 region are presented. The known imprinted genes in the BWS critical region are also discussed, including IGF2 and H19. A discussion of the diagnostic methods and genetic counseling of BWS is also provided.