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Beckwith-Wiedemann Syndrome (BWS) is a severe overgrowth disorder characterized by macroglossia, abdominal wall defects, hemihypertrophy, macrosomia, hypoglycaemia and increased risk of tumors. A number of different genetic mechanisms can lead to BWS, all of which result in abnormalities in methylation at one of two imprinting centers (ICR1 and ICR2) on chromosome 11p15.5. In approximately 20-30% of cases BWS results from paternal uniparental disomy (UPD) across the 11p15.5 region leading to an imbalance in imprinting and dysregulation of genes that are important for cell cycle regulation. As UPD is a sporadic event which may occur during embryogenesis there is often variability in the tissues which are affected. This can explain the differences in phenotype observed between individuals with BWS. Testing for BWS is not a routine test, so please contact the laboratory directly to discuss individual cases.