Abstract
Beckwith-Wiedemann Syndrome (BWS) is a phenotypically and genetically heterogeneous congenital imprinting disorder characterized by macroglossia, omphalocele, hemihypertrophy and a predisposition to embryonal tumors. BWS is caused by genetic or epigenetic alterations in the chromosomal region 11p15.5, which consists of genes that are involved in the regulation of cell growth and proliferation. BWS is generally considered a sporadic disease, as approximately 85% of BWS cases occur without family history.
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