Taxon:

Human

Gene:

"Silver Russell Syndrome"

Chromosome:

11

Location:

11p15

Description:

20-60% of patients with Slver-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, 2015).
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 (Schönherr 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 T, 2005).
Mosaic maternal UPD of chromosome 11 has been detected in a child with SRS (Bullman H et al, 2008).

Category:

Other

Record:

1008

Last Modified 1/12/2015

Links:

OMIM   


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