Silver-Russell syndrome and its genetic origins

Abstract

Silver-Russell syndrome (SRS) is both clinically and genetically a heterogeneous congenital disorder. Patients are characterised by severe intrauterine and post-natal growth retardation, dysmorphic facial features and, asymmetry. Various chromosome abnormalities have been associated with the disease, involving most often chromosome 7 and 17. In about 7% of sporadic cases, maternal uniparental disomy of chromosome 7 has been detected. Most recent findings suggest that imprinting defects within the 11p15 region also play a role in SRS.