{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T05:34:55Z","timestamp":1781847295777,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,5,6]],"date-time":"2014-05-06T00:00:00Z","timestamp":1399334400000},"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":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the <jats:italic>STS<\/jats:italic> gene. In such reports characteristic features and pathogenicity of Xp22.31 duplications remains a subject of debate. Here we present a series of nine previously unreported individuals with Xp22.31 duplications, found through microarray analysis in the course of genetic workup for developmental delay, associated with a combination of talipes anomalies, seizures and\/or feeding difficulties. The size of the Xp22.31 duplications ranged from 294\u2009kb to 1.6\u2009Mb. We show a comparison of the breakpoints, inheritance and clinical phenotype, and a review of the literature. This clinically detailed series of Xp22.31 duplication patients provides evidence that the Xp22.31 duplication contributes to a common phenotype. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36598","type":"journal-article","created":{"date-parts":[[2014,5,6]],"date-time":"2014-05-06T20:18:43Z","timestamp":1399407523000},"page":"2097-2103","source":"Crossref","is-referenced-by-count":39,"title":["Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies"],"prefix":"10.1002","volume":"164","author":[{"given":"Edward D.","family":"Esplin","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Stanford University School of Medicine Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Li","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco 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