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The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.<\/jats:p>","DOI":"10.1155\/2013\/802793","type":"journal-article","created":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T20:27:26Z","timestamp":1367440046000},"page":"1-4","source":"Crossref","is-referenced-by-count":3,"title":["Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3324-1906","authenticated-orcid":true,"given":"Sira","family":"Korpaisarn","sequence":"first","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Objoon","family":"Trachoo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8294-8601","authenticated-orcid":true,"given":"Chutintorn","family":"Sriphrapradang","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1002\/jbmr.483","volume":"26","year":"2011","journal-title":"Journal of Bone and Mineral Research"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp0803050"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0442"},{"issue":"3","key":"4","first-page":"102","volume":"67","year":"2009","journal-title":"Netherlands Journal of Medicine"},{"key":"5","doi-asserted-by":"crossref","first-page":"e123","DOI":"10.4158\/EP11102.CR","volume":"17","year":"2011","journal-title":"Endocrine Practice"},{"issue":"9","key":"6","first-page":"789","volume":"35","year":"1998","journal-title":"Journal of Medical Genetics"},{"issue":"4","key":"7","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/adc.79.4.348","volume":"79","year":"1998","journal-title":"Archives of Disease in Childhood"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026880"},{"issue":"1","key":"9","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/00125817-200101000-00006","volume":"3","year":"2001","journal-title":"Genetics in Medicine"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30984"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"issue":"10","key":"12","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","year":"1997","journal-title":"Journal of Medical Genetics"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1038\/35098574"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.156"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1577-8"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181634edf"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00858.x"},{"key":"18","first-page":"517","volume":"26","year":"2012","journal-title":"Best Practice & Research: Clinical Endocrinology & Metabolism"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-009-9613-0"},{"issue":"1","key":"20","first-page":"11","volume":"10","year":"1999","journal-title":"Genetic Counseling"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.2"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.10"}],"container-title":["Case Reports in Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2013\/802793.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2013\/802793.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2013\/802793.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,21]],"date-time":"2017-06-21T08:21:34Z","timestamp":1498033294000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crie\/2013\/802793\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":22,"alternative-id":["802793","802793"],"URL":"https:\/\/doi.org\/10.1155\/2013\/802793","relation":{},"ISSN":["2090-6501","2090-651X"],"issn-type":[{"type":"print","value":"2090-6501"},{"type":"electronic","value":"2090-651X"}],"subject":[],"published":{"date-parts":[[2013]]}}}