Silver-Russell Syndrome


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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Additional information

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Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square

Laboratory service


Sample requirements

5mls EDTA Blood

Reference range

Not applicable

Turnaround time

20 days

Disease / group

11p15.5 (Silver-Russell Syndrome)


Upon request

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


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services...

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