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Reverse clinical phenotype due to 5q35 microduplication encompassing <jats:italic>NSD1<\/jats:italic> gene has been reported so far in 27 cases presenting with delayed bone age, microcephaly, failure to thrive and seizures in some cases, further supporting a gene dosage effect of <jats:italic>NSD1<\/jats:italic> on growth regulation and neurological functions. Here we depict the clinical presentation of three new cases with 5q35 microduplication outlining a novel syndrome characterized by microcephaly, short stature, developmental delay and in some cases delayed bone maturation, without any typical facial or osseous anomalies. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36591","type":"journal-article","created":{"date-parts":[[2014,5,12]],"date-time":"2014-05-12T19:39:28Z","timestamp":1399923568000},"page":"2084-2090","source":"Crossref","is-referenced-by-count":23,"title":["Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion"],"prefix":"10.1002","volume":"164","author":[{"given":"Francesca","family":"Novara","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Stanzial","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Genetic Counselling Service Regional Hospital of Bolzano Bolzano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Benedicenti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Genetic Counselling Service Regional Hospital of Bolzano Bolzano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Inzana","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Genetic Counselling Service Regional Hospital of Bolzano Bolzano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Di Gregorio","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences University of Torino Torino Italy"},{"name":"S.C.D.U. 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