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Recently, two <jats:italic>SHOX<\/jats:italic> conserved non\u2010coding element duplications, one upstream and one downstream, were reported in patients referred with idiopathic short stature. To further evaluate the role of these duplications in <jats:italic>SHOX<\/jats:italic>\u2010related disorders, we describe seven patients (five with Leri\u2010Weill dyschondrosteosis and two with short stature) all of whom have duplications of part of the upstream or downstream conserved non\u2010coding element regions, identified by multiplex ligation\u2010dependent probe amplification. In addition, we show data from 32 patients with an apparently identical downstream duplication that includes a proposed putative regulatory element (identified by multiplex ligation\u2010dependent probe amplification or array comparative genome hybridization), which results in a variable phenotype from normal to mild Leri\u2013Weill dyschondrosteosis. These additional data provide further evidence that duplications of upstream and downstream long range cis\u2010regulatory DNA elements can result in a <jats:italic>SHOX<\/jats:italic>\u2010related phenotype. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37524","type":"journal-article","created":{"date-parts":[[2015,12,24]],"date-time":"2015-12-24T11:52:57Z","timestamp":1450957977000},"page":"949-957","source":"Crossref","is-referenced-by-count":26,"title":["Duplications upstream and downstream of <i>SHOX<\/i> identified as novel causes of Leri\u2013Weill dyschondrosteosis or idiopathic short stature"],"prefix":"10.1002","volume":"170","author":[{"given":"David J.","family":"Bunyan","sequence":"first","affiliation":[{"name":"Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury Wiltshire United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Baffico","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics E.O. 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