No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.


Silver-Russell syndrome (SRS) is mainly characterised by intrauterine and postnatal growth retardation (IUGR and PNGR), asymmetry, clinodactyly V and craniofacial abnormalities. More than 35% of patients carry a hypomethylation of the telomeric imprinting centre region 1 (ICR1) in 11p15; single patients show a maternal duplication of 11p15. An additional 7… (More)