Molecular genetics of Wiedemann-Beckwith syndrome.
Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. WBS is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic cause of WBS will provide important insights into the molecular and epigenetic changes associated with loss of normal growth control and cancer in this syndrome. Currently available protocols for diagnostic testing, patient monitoring and genetic counselling will evolve as our understanding of the molecular basis of WBS progresses.
Department of Pediatrics, Hospital for Sick Children and University of Toronto, Ontario, Canada.
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Li
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Squire
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Weksberg
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology