{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:39:31Z","timestamp":1784205571105,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T00:00:00Z","timestamp":1375056000000},"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>In 1979 a \u201cnew\u201d syndrome characterized by X\u2010linked inheritance, hypogonadism, gynecomastia, intellectual disability, obesity, and short stature was described. The now\u201036\u2010year\u2010old propositus was recently referred to the genetics clinic for profound intellectual disability. Fragile X testing initially demonstrated a duplication of the <jats:italic>FMR1<\/jats:italic> region, and upon further testing we identified an Xq27.3\u2013q28 8.05\u2009Mb\u2010long duplication responsible for a syndrome. Our report describes the molecular and clinical aspects of the X\u2010linked syndrome. Our results suggest that male patients with intellectual disability, hypogonadism, short stature, and gynecomastia should be further investigated for rearrangements in the Xq27.3\u2013q28 region. In the future, when more cases of the duplication are identified, it may become possible to more accurately determine the specific genes affected by overexpression and responsible for the phenotype. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36034","type":"journal-article","created":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T19:47:23Z","timestamp":1375127243000},"page":"2294-2299","source":"Crossref","is-referenced-by-count":21,"title":["Duplication of the Xq27.3\u2013q28 region, including the <i>FMR1<\/i> gene, in an X\u2010linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Scott E.","family":"Hickey","sequence":"first","affiliation":[{"name":"Section of Human and Molecular Genetics Nationwide Children's Hospital Columbus Ohio"},{"name":"Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Walters\u2010Sen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Nationwide Children's Hospital Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa Mihalic","family":"Mosher","sequence":"additional","affiliation":[{"name":"Section of Human and Molecular Genetics Nationwide Children's Hospital Columbus Ohio"},{"name":"Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruthann B.","family":"Pfau","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Nationwide Children's Hospital Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Pyatt","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Nationwide Children's Hospital Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela J.","family":"Snyder","sequence":"additional","affiliation":[{"name":"Department of Pathology The Ohio State Wexner Medical Center Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan F.","family":"Sotos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio"},{"name":"Department of Pediatrics, Section of Endocrinology and Metabolism Nationwide Children's Hospital Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Prior","sequence":"additional","affiliation":[{"name":"Department of Pathology The Ohio State Wexner Medical Center Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2011.05.003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0340-y"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.159"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30683"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430139"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80350-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.78"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36034","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36034","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:53:33Z","timestamp":1695563613000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,29]]},"references-count":7,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1002\/ajmg.a.36034"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36034","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,29]]}}}