{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:09Z","timestamp":1756339389078,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,8,25]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>22q11.2 deletion syndrome is a condition with complex multisystem involvement, and many clinicians will encounter patients living with the condition. 22q11.2 deletion syndrome is known to significantly increase the risk of psychosis, and there is some emerging evidence that 22q11.2 deletion syndrome may be associated with an increased risk of malignancy. We report on a case of an adolescent female who had a delayed diagnosis of 22q11.2 deletion syndrome after she developed severe psychosis at an early age. She was subsequently diagnosed in late adolescence with papillary thyroid carcinoma. This case contributes to the limited body of evidence regarding the treatment of psychosis secondary to 22q11.2 deletion syndrome and the potential increased risk of malignancy associated with the genetic condition.<\/jats:p>","DOI":"10.1136\/bcr-2023-259117","type":"journal-article","created":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T12:05:12Z","timestamp":1725105912000},"page":"e259117","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Schizophrenia and papillary thyroid carcinoma in an adolescent female with 22q11.2 deletion syndrome"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7354-0580","authenticated-orcid":false,"given":"Emily","family":"Feng-Gu","sequence":"first","affiliation":[{"name":"Psychiatry, Austin Health, Heidelberg, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"McQuillan","sequence":"additional","affiliation":[{"name":"Psychiatry, Austin Health, Heidelberg, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Assan","sequence":"additional","affiliation":[{"name":"Psychiatry, Austin Health, Heidelberg, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Coffey","sequence":"additional","affiliation":[{"name":"Psychiatry, Austin Health, Heidelberg, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,8,31]]},"reference":[{"key":"2025082700552177000_17.8.e259117.1","article-title":"Deletion Syndrome 22q11.2: a Systematic Review","volume":"9","author":"Cort\u00e9s-Mart\u00edn","year":"2022","journal-title":"Children (Basel)"},{"key":"2025082700552177000_17.8.e259117.2","doi-asserted-by":"crossref","first-page":"123","DOI":"10.2147\/TACG.S82105","article-title":"22q11 deletion syndrome: current perspective","volume":"8","author":"Hac\u0131hamdio\u011flu","year":"2015","journal-title":"Appl Clin Genet"},{"key":"2025082700552177000_17.8.e259117.3","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2013.13070864"},{"key":"2025082700552177000_17.8.e259117.4","doi-asserted-by":"publisher","DOI":"10.1080\/09540261.2022.2123273"},{"key":"2025082700552177000_17.8.e259117.5","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1002\/ajmg.a.38474","article-title":"The 22q11.2 deletion syndrome: cancer predisposition, platelet abnormalities and cytopenias","volume":"176","author":"Lambert","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025082700552177000_17.8.e259117.6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31199"},{"key":"2025082700552177000_17.8.e259117.7","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/ccr3.880","article-title":"Risk of malignancy in 22q11.2 deletion syndrome","volume":"5","author":"Stevens","year":"2017","journal-title":"Clin Case Rep"},{"key":"2025082700552177000_17.8.e259117.8","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1111\/apa.16737","article-title":"Childhood manifestations of 22q11.2 deletion syndrome: a Finnish nationwide register-based cohort study","volume":"112","author":"Wahrmann","year":"2023","journal-title":"Acta Paediatr"},{"key":"2025082700552177000_17.8.e259117.9","doi-asserted-by":"crossref","first-page":"E391","DOI":"10.1503\/jpn.220091","article-title":"Clinical management of psychosis in 22q11.2 deletion syndrome","volume":"47","author":"Iftimovici","year":"2022","journal-title":"J Psychiatry Neurosci"},{"key":"2025082700552177000_17.8.e259117.10","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1007\/s00787-019-01326-4","article-title":"Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review","volume":"29","author":"Mosheva","year":"2020","journal-title":"Eur Child Adolesc Psychiatry"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:55:28Z","timestamp":1756281328000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,8,31]]},"published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1136\/bcr-2023-259117"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259117","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,8]]}}}