Rosanna Weksberg, Ph.D., M.D., is a clinical and molecular geneticist. She is a Professor of Pediatrics and Medical Genetics at the University of Toronto and is the Head of the Division of Clinical and Metabolic Genetics and Co-Director of the Cancer Genetics Program at the Hospital for Sick Children in Toronto, Canada. She is a Senior Associate Scientist in the Research Institute at the Hospital for Sick Children and her research focuses on the role of genomic imprinting on human growth regulation, specifically syndromes involving overgrowth and cancer pre-disposition.
Article first published online: 11 JUL 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Overgrowth Syndrome: An Update
Volume 137C, Issue 1, pages 12–23, 15 August 2005
How to Cite
Weksberg, R., Shuman, C. and Smith, A. C. (2005), Beckwith–Wiedemann syndrome. Am. J. Med. Genet., 137C: 12–23. doi: 10.1002/ajmg.c.30058
- Issue published online: 20 JUL 2005
- Article first published online: 11 JUL 2005
- genomic imprinting;
- embryonal tumors;
- chromosome 11p15;
- imprinted domains;
- monozygotic twinning
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.