{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T08:12:55Z","timestamp":1792138375680,"version":"4.4.0"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,11,26]],"date-time":"2003-11-26T00:00:00Z","timestamp":1069804800000},"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":[[2004,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 34\u2010year\u2010old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia. Chromosome analysis disclosed a mosaic 46,XY,del(11)(q24.1)\/46,XY karyotype with a very low percentage of normal cells. In addition, transverse upper limb defect, imperforate anus, and hearing impairment were noted. Cellular anomalies include functional impairment and deficiency of T\u2010helper cells, and a low serum immunoglobulin M (IgM)\u2010level. The presence of a transverse limb defect and primary immunodeficiency has not been reported previously in Jacobsen syndrome. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20592","type":"journal-article","created":{"date-parts":[[2004,3,26]],"date-time":"2004-03-26T08:07:05Z","timestamp":1080288425000},"page":"293-298","source":"Crossref","is-referenced-by-count":25,"title":["Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34\u2010year\u2010old patient with Jacobsen syndrome"],"prefix":"10.1002","volume":"126A","author":[{"given":"Dagmar","family":"von 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