Beckwith-Wiedemann syndrome.
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.
Weksberg
Rosanna
R
University of Toronto, Canada. rweksb@sickkids.ca
Shuman
Cheryl
C
Smith
Adam C
AC
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000196:embryology / Q000235:genetics / Q000628:therapy; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D014430:Twins, Monozygotic / Q000235:genetics