Prader-Willi syndrome (PWS), occurring in 1/15000 - 1/20000 individuals, is characterised by diminished fetal activity, obesity, muscular hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, and small hands and feet. The PWS phenotype results from the lack of a paternal contribution at 15q11-q13.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
15q11-q13 (Prader Willi 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