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Silver–Russell syndrome (SRS) is a clinical and genetic heterogeneous malformation syndrome. Patients show intrauterine and postnatal growth retardation (<3rd centile), and numerous additional dysmorphisms such as a relative macrocephaly, a small triangular face, a prominent forehead, clinodactyly V and asymmetry of head, limbs and trunk (for a review, see Hitchins et al1). Several genetic disturbances have meanwhile been described, among them cytogenetic aberrations affecting different chromosomes and maternal uniparental disomy of chromosome 7 in 7–10% of cases. Epimutations of the telomeric imprinting centre region 1 (ICR1) in 11p15 can be detected in at least 30% of cases (for a review, see Eggermann …
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