{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T04:06:50Z","timestamp":1730434010903,"version":"3.28.0"},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"10","license":[{"start":{"date-parts":[[1998,10,1]],"date-time":"1998-10-01T00:00:00Z","timestamp":907200000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A male infant delivered at term to unrelated parents was found to have multiple dysmorphic facial characteristics, abnormal head shape, anemia, thrombocytopenia, a prominent holosystolic heart murmur with multiple cardiac defects, hypotonia, and was small for his gestational age. Karotype revealed a de novo deletion of the long arm of chromosome 11, del (11 )(q23), which has been previously described as Jacobsen syndrome. Recent studies have demonstrated that a folate-sensitive fragile site at 11q, band 23, (1lq23) may be responsible for this deletion and possibly other syndromes as well.<\/jats:p>","DOI":"10.1515\/jom-1998-0102","type":"journal-article","created":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T21:04:45Z","timestamp":1681333485000},"page":"551-554","source":"Crossref","is-referenced-by-count":0,"title":["Jacobsen syndrome: Chromosome deletion at llq23"],"prefix":"10.1515","volume":"98","author":[{"given":"Daniel R.","family":"Clang","sequence":"first","affiliation":[{"name":"Faculty, Family Practice Residency Program, McLaren Regional Medical Center , G-3245 Beecher Rd , flint , Ml . USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J.","family":"LaBaere II","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,4,12]]},"container-title":["Journal of Osteopathic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jom-1998-0102\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jom-1998-0102\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,31]],"date-time":"2024-10-31T08:21:52Z","timestamp":1730362912000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jom-1998-0102\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10,1]]},"references-count":0,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,4,12]]},"published-print":{"date-parts":[[2023,4,12]]}},"alternative-id":["10.1515\/jom-1998-0102"],"URL":"https:\/\/doi.org\/10.1515\/jom-1998-0102","relation":{},"ISSN":["2702-3648"],"issn-type":[{"type":"electronic","value":"2702-3648"}],"subject":[],"published":{"date-parts":[[1998,10,1]]}}}