{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:28:26Z","timestamp":1791901706230,"version":"4.3.4"},"reference-count":64,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,6,11]],"date-time":"2004-06-11T00:00:00Z","timestamp":1086912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We performed a prospective study of 110 patients (75 not previously published) with the 11q terminal deletion disorder (previously called Jacobsen syndrome), diagnosed by karyotype. All the patients have multiple dysmorphic features. Nearly all the patients (94%) have Paris\u2010Trousseau syndrome characterized by thrombocytopenia and platelet dysfunction. In total, 56% of the patients have serious congenital heart defects. Cognitive function ranged from normal intelligence to moderate mental retardation. Nearly half of the patients have mild mental retardation with a characteristic neuropsychiatric profile demonstrating near normal receptive language ability, but mild to moderate impairment in expressive language. Ophthalmologic, gastrointestinal, and genitourinary problems were common, as were gross and fine motor delays. Infections of the upper respiratory system were common, but no life\u2010threatening infections were reported. We include a molecular analysis of the deletion breakpoints in 65 patients, from which genetic \u201ccritical regions\u201d for 14 clinical phenotypes are defined, as well as for the neuropsychiatric profiles. Based on these findings, we provide a comprehensive set of recommendations for the clinical management of patients with the 11q terminal deletion disorder. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30090","type":"journal-article","created":{"date-parts":[[2004,6,11]],"date-time":"2004-06-11T19:03:32Z","timestamp":1086980612000},"page":"51-61","source":"Crossref","is-referenced-by-count":257,"title":["The 11q terminal deletion disorder: A prospective study of 110 cases"],"prefix":"10.1002","volume":"129A","author":[{"given":"Paul 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