{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T18:05:16Z","timestamp":1773770716792,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T00:00:00Z","timestamp":1375401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Loss\u2010of\u2010function mutations of <jats:italic>NSD1<\/jats:italic> and 5q35 microdeletions encompassing <jats:italic>NSD1<\/jats:italic> are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). Microduplications of 5q35.2\u2013q35.3 including <jats:italic>NSD1<\/jats:italic> have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of <jats:italic>NSD1<\/jats:italic>. Here, we report on nine patients from five families with interstitial duplication 5q35 including <jats:italic>NSD1<\/jats:italic> detected by molecular karyotyping. The clinical features of all 14 individuals are reviewed. Patients with microduplications including <jats:italic>NSD1<\/jats:italic> appear to have a consistent phenotype consisting of short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. Based on our findings, we discuss the possible etiology and conclude that it is possible, but so far unproven, that a gene dosage effect of <jats:italic>NSD1<\/jats:italic> may be the major cause. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36046","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T16:58:45Z","timestamp":1375462725000},"page":"2158-2166","source":"Crossref","is-referenced-by-count":39,"title":["The phenotypic spectrum of duplication 5q35.2\u2013q35.3 encompassing <i>NSD1<\/i>: Is it really a reversed sotos syndrome?"],"prefix":"10.1002","volume":"161","author":[{"given":"Nicola","family":"Dikow","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca","family":"Maas","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harald","family":"Gaspar","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Freiburg Medical Center Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Kreiss\u2010Nachtsheim","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut","family":"Engels","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alma","family":"Kuechler","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4tsklinikum Essen Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lutz","family":"Garbes","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Netzer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa M.","family":"Neuhann","sequence":"additional","affiliation":[{"name":"MGZ\u2014Medizinisch Genetisches Zentrum Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Udo","family":"Koehler","sequence":"additional","affiliation":[{"name":"MGZ\u2014Medizinisch Genetisches Zentrum Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Casteels","sequence":"additional","affiliation":[{"name":"University Hospitals Leuven and Department 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