BWS is a complex, multigenic disorder caused by alterations in growth regulatory genes on chromosome 11p15. Approximately 85% of BWS cases are sporadic and are mainly caused by epigenetic alterations in one of the two imprinting control regions on chromosome 11p15 (ICR1 and ICR2)
Also known as
BWS, Exomphalos-Macroglossia-Gigantism Syndrome, EMGS
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
5mls EDTA Blood
Disease / group
11p15.5 (Beckwith Wiedemann Syndrome)
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis