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The University of Southampton
Wessex Imprinting GroupInformation for clinicians

Silver Russell Syndrome (SRS)

This is a condition characterised by intrauterine and postnatal growth retardation. There is relative sparing of head growth and it is often associated with asymmetric growth, clinodactyly and patchy skin pigmentation.

Genetic Causes

SRS has been demonstrated to be due to aberrant expression of imprinted genes within the imprinted gene cluster on chromosome 11p15.5; Domain 1 containing the genes IGF2 (paternally expressed fetal growth factor) and H19 (maternally expressed) as shown in the figure below. There is a differentially paternally methylated region between the two genes which regulates expression.

SRS has also been demonstrated in patients with maternal uniparental disomy of chromosome 7 in approximately 10% of cases5. The imprinted domain responsible for the phenotype is not known.

Testing for SRS

Epigenetic analysis at 11p15.5
Submicroscopic duplications or deletions at 11p15.5

To send with samples when you send us a sample for genetic testing please send us all details
These include:
Referring clinician details
Patient Details
Clinical Presentation and birth weight including gestation and head circumference
Current status of patient including growth parameters
Any other clinical features


When taking samples you should get written consent for the testing - as with any genetic test. We ask that you ask for consent to test for the genetic cause of Silver Russell syndrome rather than just for 11p15.5 testing.

Send the sample to:-
Dr David Robinson
Senior Scientist
Wessex Imprinting Group
Wessex Regional Genetics Laboratory
Salisbury Health Care Trust

For discussion about molecular testing contact Dr David Robinson or Dr Deborah Mackay tel 01722 425048
And clinical details can be discussed with:-

Dr Karen Temple
Prof of Medical Genetics
and Honorary Consultant in Clinical Genetics
Wessex Imprinting Group
Princess Anne Hospital
Coxford Road
SO16 5YA
tel 02380 796625

For more information on genetic testing please look at the genetic testing section on this website.

References for Silver Russell Syndrome

(1) Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005; 37(9):1003-1007.
(2) Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 2007; 92(8):3148-3154.
(3) Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 2002; 111(3):290-296.
(4) Eggermann T, Meyer E, Obermann C, Heil I, Schuler H, Ranke MB et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 2005; 42(5):e26.
(5) Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann HA. Uniparental disomy: clinical indications for testing in growth retardation. Eur J Pediatr 2002; 161(6):305-312.

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