20-60% of patients with Silver-Russell syndrome show (partial) hypomethylation of the H19 DMR,
presumably leading to loss of IGF2 expression during fetal development (Gicquel
C et al, 2005; Eggermann
T et al, 2006; Schönherr
N et al, 2006; Netchine
I et al, 2007; Prickett AR et al,
In one patient a maternally inherited duplication included a region of 0.76-1 Mbp and affected the
genes regulated by the ICR2, among them CDKN1C and LIT1
N et al, 2007).
Duplication of maternal 11p15 was detected in two patients with Silver-Russell syndrome. The extra
maternally-derived 11p15 material was translocated onto chromosomes 10q and 15p respectively (Eggermann
Mosaic maternal UPD of chromosome 11 has been detected in a child with SRS (Bullman
H et al, 2008).