SRS is a genetically heterogeneous disorder. Up to 50% of cases are due tabnormal methylation of chromosome 11p15, particularly decreased methylatioat the H19DMR imprinting control centre (ICR1). Approximately 5-10% oindividuals with SRS will have maternal uniparental disomy of chromosome 7.
Also known as
Russell-Silver Syndome, SRS, RSS
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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 (Silver-Russell 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