Abstract
Etiology The Silver Russell syndrome is genetically heterogeneous. Maternal uniparental disomy of chromosome 7 is observed in 7-10% of patients (7p11.2-p13 and 7q31-qter regions). More than 35% of patients carry a hypomethylation of the telomeric imprinting centre region 1 (ICR1) in 11p15 including the H19 and IGF-II genes; single patients show a maternal duplication of 11p15. Rare chromosomal rearrangements were found in the Silver Russell like syndrome involving the short arm of chromosome 7, the short and long arm chromosome 17 and the long arm chromosome 1.
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