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Russell-Silver syndrome

Definition:

Russell-Silver syndrome, also known as Silver-Russell syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. About 50% of the patients carry (epi)genetic alterations involving chromosomes 7 or 11. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes.

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