{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T02:12:57Z","timestamp":1755223977578,"version":"3.43.0"},"reference-count":3,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,11]],"date-time":"2022-12-11T00:00:00Z","timestamp":1670716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Takayasu arteritis (TAK) is a rare type of large and medial vessel systemic vasculitis. A variety of factors are thought to play a role in the occurrence and development of TAK such as human leukocyte antigen\u2010B52, autoimmunity, inflammation and environmental factors. 3q29 microdeletion syndrome is also a very rare inherited disease, which includes intellectual disability, growth retardation and neuropsychiatric disorders. Here, we present a case with concomitant TAK and 3q29 microdeletion syndrome. A 22\u2010year\u2010old woman presented to the emergency department with sudden bilateral vision loss and severe headache. During physical examination, the patient was noted to have a difference in blood pressure between extremities. Computed tomography angiography revealed vascular wall inflammation in the abdominal aorta. Based on clinical and radiographical findings, a diagnosis of TAK was made. Concurrently, the patient was found to have short stature and intellectual disability. A possible genetic etiology was sought out. Chromosome analysis showed a 1.5\u2009Mb heterozygous deletion on chromosome 3 and a diagnosis of 3q29 microdeletion was made. Additional imaging also revealed a split cord in medulla spinalis along with hemivertebrae and fusion anomalies, neither of which were reported in TAK or 3q29 microdeletion cases in the literature.<\/jats:p>","DOI":"10.1111\/1756-185x.14515","type":"journal-article","created":{"date-parts":[[2022,12,11]],"date-time":"2022-12-11T14:08:15Z","timestamp":1670767695000},"page":"778-780","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Coexistence of 3q29 microdeletion syndrome and Takayasu arteritis: A case report"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9162-0202","authenticated-orcid":false,"given":"Cansu","family":"Co\u015fkun","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Gazi University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u0131za Can","family":"Karda\u015f","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Internal Medicine Gazi University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamit","family":"K\u00fc\u00e7\u00fck","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Internal Medicine Gazi University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.026"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/08830185.2012.740105"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"1993","author":"Mulle JG","key":"e_1_2_5_4_1"}],"container-title":["International Journal of Rheumatic Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.14515","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1756-185X.14515","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.14515","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T10:50:24Z","timestamp":1754995824000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1756-185X.14515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,11]]},"references-count":3,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1111\/1756-185X.14515"],"URL":"https:\/\/doi.org\/10.1111\/1756-185x.14515","archive":["Portico"],"relation":{},"ISSN":["1756-1841","1756-185X"],"issn-type":[{"type":"print","value":"1756-1841"},{"type":"electronic","value":"1756-185X"}],"subject":[],"published":{"date-parts":[[2022,12,11]]},"assertion":[{"value":"2022-09-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}