{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T01:20:00Z","timestamp":1699233600327},"reference-count":0,"publisher":"EduRad","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Radiology Case"],"abstract":"<jats:p>Xp21.2 duplication syndrome is a rare genetic disorder of undetermined prevalence and clinical relevance. As the use of chromosomal microarray has become first line for the work-up of childhood developmental delay, more gene deletions and duplications have been recognized. To the best of our knowledge, the imaging findings of Xp21.2 duplication syndrome have not been reported. We report a case of a 33 month-old male referred for developmental delay that was found to have an Xp21.2 duplication containing IL1RAPL1 and multiple midline brain malformations.<\/jats:p>","DOI":"10.3941\/jrcr.v10i5.2563","type":"journal-article","created":{"date-parts":[[2016,5,31]],"date-time":"2016-05-31T23:51:03Z","timestamp":1464738663000},"page":"9-14","source":"Crossref","is-referenced-by-count":2,"title":["MR Imaging Findings in Xp21.2 Duplication Syndrome"],"prefix":"10.3941","volume":"10","author":[{"given":"Matthew T.","family":"Whitehead","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Helman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea L.","family":"Gropman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2326","published-online":{"date-parts":[[2016,5,28]]},"container-title":["Journal of Radiology Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/radiologycases.radcoach.com\/index.php\/radiologycases\/article\/download\/2563\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/radiologycases.radcoach.com\/index.php\/radiologycases\/article\/download\/2563\/interactive","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/radiologycases.radcoach.com\/index.php\/radiologycases\/article\/download\/2563\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:42:04Z","timestamp":1694328124000},"score":1,"resource":{"primary":{"URL":"https:\/\/radiologycases.radcoach.com\/index.php\/radiologycases\/article\/view\/2563"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,28]]},"references-count":0,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,5,31]]}},"URL":"https:\/\/doi.org\/10.3941\/jrcr.v10i5.2563","relation":{},"ISSN":["1943-0922"],"issn-type":[{"value":"1943-0922","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,28]]}}}