{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:15:16Z","timestamp":1761844516786,"version":"3.44.0"},"reference-count":20,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,5,26]]},"abstract":"<jats:p>Patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) exhibit various combinations of signs and symptoms including facial dysmorphism, thymus absence, hypoparathyroidism, cellular immunodeficiency and cardiac abnormalities caused by microdeletion of chromosome 22q11.2. Most cases are diagnosed during post-natal cardiac evaluation, though some are diagnosed at later stages. We report the case of a 39-year-old man with 22q11.2DS presenting with seizure due to tardily manifested hypocalcaemia and anxiety disorder. Our experience suggests that 22q11.2DS patients lacking fatal or well-recognised manifestations such as cardiac defects, immunodeficiency and facial dysmorphism tend to survive without medical attention, and are therefore overlooked. Recognition of the age-related variance of the manifestations, and specifically of tardily manifested hypocalcaemia and psychiatric or developmental disorders as manifestations of 22q11.2DS in adulthood, is important for diagnosis and can also help us provide appropriate medical and psychosocial support for newly diagnosed 22q11.2DS patients in adolescence or adulthood and their families.<\/jats:p>","DOI":"10.1136\/bcr-2014-208903","type":"journal-article","created":{"date-parts":[[2015,6,8]],"date-time":"2015-06-08T06:59:36Z","timestamp":1433746776000},"page":"bcr2014208903","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Characteristics of 22q 11.2 deletion syndrome undiagnosed until adulthood: an example suggesting the importance of psychiatric manifestations"],"prefix":"10.1136","volume":"2015","author":[{"given":"Kenta","family":"Furuya","sequence":"first","affiliation":[{"name":"Department of General Medicine and Emergency Care, Toho University School of Medicine, Ota-Ku, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of General Medicine and Emergency Care, Toho University School of Medicine, Ota-Ku, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taizo","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of General Medicine and Emergency Care, Toho University School of Medicine, Ota-Ku, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihisa","family":"Urita","sequence":"additional","affiliation":[{"name":"Department of General Medicine and Emergency Care, Toho University School of Medicine, Ota-Ku, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,6,8]]},"reference":[{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.16.2421"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.2","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.33.418"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.3","doi-asserted-by":"publisher","DOI":"10.14442\/general.15.72"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2008.01.003"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.6","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.7","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11 deletion syndrome","volume":"138","author":"Bassett","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70372-4"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.9","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00004"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.10","first-page":"102","article-title":"A symptomatic hypoparathyroidism based on a 22q 11.2 deletion first diagnosed in a 43-year old woman","volume":"67","author":"Van Den Berg","year":"2009","journal-title":"Neth J Med"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.11","first-page":"2945","article-title":"Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady","volume":"125","author":"Shea","year":"2012","journal-title":"Chin Med J (Engl)"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2009.01.001"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.13","first-page":"389","article-title":"Hypocalcemia and Chromosome 22q 11.2 microdeletion","volume":"10","author":"Garabedian","year":"1999","journal-title":"Genet Couns"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.14","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.93.9.1702"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.15","first-page":"55","article-title":"Mechanism of intracerebral calcification in hypoparathyroidism","volume":"15","author":"Fujita","year":"2004","journal-title":"Clin Calcium"},{"key":"2025082702320220000_2015.jun08_1.bcr2014208903.16","unstructured":"Riggs J . 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