{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T03:45:39Z","timestamp":1773719139341,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T00:00:00Z","timestamp":1467244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"Silver\u2013Russell syndrome (SRS<\/jats:styled-content>) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly 50% of cases show a hypomethylation in 11p15.5, in 10% maternal uniparental disomy of chromosome 7 is present. A significant number of patients with SRS<\/jats:styled-content> features also exhibit chromosomal aberrations. We analyzed 43 individuals referred for SRS<\/jats:styled-content> genetic testing by molecular karyotyping. Pathogenic variants could be detected in five of them, including a NSD1<\/jats:styled-content><\/jats:italic> duplication in 5q35 and a 14q32 microdeletion. NSD1<\/jats:styled-content><\/jats:italic> deletions are detectable in overgrowth disorders (Sotos syndrome and Beckwith\u2013Wiedemann syndrome), whereas NSD1<\/jats:styled-content><\/jats:italic> duplications are associated with growth retardation. The 14q32 deletion is typically associated with Temple syndrome (TS14<\/jats:styled-content>), but the identification of a patient in our cohort reflects the clinical overlap between TS14<\/jats:styled-content> and SRS<\/jats:styled-content>. As determination of molecular subtypes is the basis for a directed counseling and therapy, the identification of pathogenic variants in >10% of the total cohort of patients referred for SRS<\/jats:styled-content> testing and in >16% of characteristic individuals with the characteristic SRS<\/jats:styled-content> phenotype confirms the need to apply molecular karyotyping in this cohort.<\/jats:p>","DOI":"10.1111\/cge.12803","type":"journal-article","created":{"date-parts":[[2016,5,13]],"date-time":"2016-05-13T11:08:43Z","timestamp":1463137723000},"page":"73-78","source":"Crossref","is-referenced-by-count":25,"title":["NSD1<\/scp><\/i> duplication in Silver\u2013Russell syndrome (SRS<\/scp>): molecular karyotyping in patients with SRS<\/scp> features"],"prefix":"10.1111","volume":"91","author":[{"given":"J.","family":"Sachwitz","sequence":"first","affiliation":[{"name":"Institute of Human Genetics RWTH Aachen Aachen 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