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Duplications of the long arm of the X chromosome have been reported in patients with ID, short stature, facial anomalies, and in many cases hypoplastic genitalia and\/or behavioral abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we report on a large Iranian family with X\u2010linked ID caused by a duplication on the X chromosome identified by whole genome sequencing in combination with linkage analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven affected males in different branches of the family presented with ID, short stature, seizures, facial anomalies, behavioral abnormalities (aggressiveness, self\u2010injury, anxiety, impaired social interactions, and shyness), speech impairment, and micropenis. The duplication of the region Xq13.2q13.3, which is ~1.8\u00a0Mb in size, includes seven protein\u2010coding OMIM genes. Three of these genes, namely <jats:italic>SLC16A2<\/jats:italic>, <jats:italic>RLIM<\/jats:italic>, and <jats:italic>NEXMIF<\/jats:italic>, if impaired, can lead to syndromes presenting with ID. Of note, this duplicated region was located within a linkage interval with a LOD score &gt;3.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our report indicates that CNVs should be considered in multi\u2010affected families where no candidate gene defect has been identified in sequencing data analysis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1418","type":"journal-article","created":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T06:39:40Z","timestamp":1595831980000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability"],"prefix":"10.1002","volume":"8","author":[{"given":"Sepideh","family":"Mehvari","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0447-2625","authenticated-orcid":false,"given":"Farzaneh","family":"Larti","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Hu","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"},{"name":"Guangzhou Institute of Pediatrics Guangzhou Women and Children\u2019s Medical Center Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zohreh","family":"Fattahi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences Tehran Iran"},{"name":"Kariminejad \u2013 Najmabadi Pathology &amp; 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