Silver-Russell syndrome, RSS/SRS
Analysis ID 283
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Silver-Russell syndrome, RSS/SRS
OMIM #180860
Clinical information Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular face and a prominent forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 represents a major cause of the disorder. Opposite epigenetic mutations, namely hypermethylation at the same region on 11p15 are observed in about 5 to 10% patients with Beckwith-Wiedemann overgrowth syndrome.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes 11p15 locus
Analysis description Metylation dependant MLPA analysis of the 11p15 locus
Analysis indication Symptoms of Silver-Russell syndrome
Analysis time 3 – 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders