RUSSELL-SILVER SYNDROME

Russell-Silver syndrome (RSS) is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate. Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop recurrent episodes of low blood sugar as a result of feeding difficulties. Older patients with Russell-Silver syndrome may exhibit short stature, triangular face, prominent forehead, narrow chin and small jaw, clinodactyly, and uneven growth of limbs. Intellectual and speech delays have also been observed in patients.

Russell-Silver syndrome is associated with changes in methylation involving the H19 gene, which is located at chromosome region 11p15. The genes in this region are involved in directing normal growth. A loss of methylation disrupts the regulation of these genes, which leads to slow growth and the other characteristic features of this disorder.

This assay uses MS-MLPA probes specifically designed for the RSS chromosome region 11p15.5. Bioinformatics analysis is then performed by commercially available software package Coffalyser.Net (V 0.1) designed by MRC-Holland. MS-MLPA effectively detects about 35-50% of the patients with RSS caused by IC1 methylation abnormalities, 11p15.5 UPD, and copy number variants of chromosome 11p15.5.

CPT Code: 81401

Specimen Requirements: 2-5 mL Blood- EDTA tube (Lavender Top)

For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.

Turn-around-time: 21 days

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