{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T03:11:12Z","timestamp":1779160272991,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T00:00:00Z","timestamp":1395705600000},"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":[[2014,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>17p13.1 Deletion encompassing <jats:italic>TP53<\/jats:italic> has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing <jats:italic>TP53<\/jats:italic> has been reported in a patient with intellectual disability, seizures, obesity, and diabetes mellitus. Here, we present a patient with a 17p13.1 duplication who exhibited obesity and intellectual disability, similar to the previous report. The 9\u2010year\u2010old proposita was referred for the evaluation of intellectual disability and obesity. She also exhibited insulin resistance and liver dysfunction. She had wide palpebral fissures, upturned nostrils, a long mandible, short and slender fingers, and skin hyperpigmentation. Array comparative genomic hybridization (array CGH) detected a 3.2\u2009Mb duplication of 17p13.1\u2013p13.2 encompassing <jats:italic>TP53<\/jats:italic>, <jats:italic>FXR2<\/jats:italic>, <jats:italic>NLGN2<\/jats:italic>, and <jats:italic>SLC2A4<\/jats:italic>, which encodes the insulin\u2010responsive glucose transporter 4 (GLUT4) associated with insulin\u2010stimulated glucose uptake in adipocytes and muscle. We suggest that 17p13.1 duplication may represent a clinically recognizable condition characterized partially by a characteristic facial phenotype, developmental delay, and obesity. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36477","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T17:07:21Z","timestamp":1395767241000},"page":"1550-1554","source":"Crossref","is-referenced-by-count":15,"title":["De novo duplication of 17p13.1\u2013p13.2 in a patient with intellectual disability and obesity"],"prefix":"10.1002","volume":"164","author":[{"given":"Yukiko","family":"Kuroda","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuko","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama 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