Epigenetic and genetic diagnosis of Silver-Russell syndrome.

  title={Epigenetic and genetic diagnosis of Silver-Russell syndrome.},
  author={Thomas Eggermann and Sabrina Spengler and Magdalena Gogiel and Matthias Begemann and Miriam Elbracht},
  journal={Expert review of molecular diagnostics},
  volume={12 5},
Silver-Russell syndrome (SRS) is a congenital imprinting disorder characterized by intrauterine and postnatal growth restriction and further characteristic features. SRS is genetically heterogenous: 7-10% of patients carry a maternal uniparental disomy of chromosome 7; >38% show a hypomethylation in imprinting control region 1 in 11p15; and a further class of mutations are copy number variations affecting different chromosomes, but mainly 11p15 and 7. The diagnostic work-up should thus aim to… CONTINUE READING


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ZAC , Lit 1 ( KCNQ 1 OT 1 ) and p 57 KIP 2 ( CKDN 1 C ) are in an imprinted gene network that might play a role in Beckwith – Wiedemann syndrome

T Arima, T Kamikihara
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