Genetik und Epigenetik des Silver-Russell-Syndroms

Silver-Russell syndrome (SRS) is a congenital imprinting disorder mainly characterized by severe intrauterine and postnatal growth retardation, relative macrocephaly, a triangular face and asymmetry of the body. The detection of (epi)genetic aberrations is now possible in about 50% of SRS patients where 7–10% carry a maternal uniparental disomy of chromosome 7 (upd(7)mat) and 40% of the patients show (epi)genetic disturbances in the chromosomal region 11p15. In addition to conventional cytogenetic findings submicroscopic chromosomal imbalances can be detected by molecular karyotyping of the patients. Because there is no unambiguous (epi)genotype-phenotype correlation and clinical diagnosis is complicated due to the variable occurrence of symptoms, genetic testing should be considered in patients showing only some of the typical disease features.