Salsa Ms-mlpa Probemix Me030-c3 Bws/rss

Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumour development. Russell-Silver syndrome (RSS) is a genetically heterogeneous disorder involving both intrauterine and postnatal growth retardation. The incidence of both BWS and RSS is estimated to be approximately 1 in 10,000-15,000 newborns and around 85% of the cases are sporadic. These conditions are both caused by a genetic or epigenetic alteration within two domains of imprinted growth regulatory genes on chromosome 11p15, leading to deregulated expression of the imprinted genes within this region. Approximately 60-70% of the patients have imprinting abnormalities at one of two imprinted domains H19DMR (IC1) or KvDMR (IC2), and these changes are frequently mosaic. Other causes of BWS and RSS are uniparental disomy (UPD), trisomy 11p15 (1%), mutations in the CDKN1C gene (10%), as well as small deletions and translocations.