{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T23:32:18Z","timestamp":1781566338076,"version":"3.54.5"},"reference-count":13,"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><jats:p>Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation. Serum insulin\u2010like growth factor\u20101 (IGF\u20101) levels are an indirect indicator of growth hormone activity and are a useful initial screening tool in the assessment of an individual's growth hormone axis. We studied nine children with JS, eight of whom had short stature. Four out of eight children with short stature (50%) had low IGF\u20101 values, with three low for age and one low for Tanner stage. Four out of six males (67%) had cryptorchidism, a potential sign of hypogonadism. We conclude that low IGF\u20101 is common in patients with JS and short stature, and that growth hormone status and possibly hypothalamic\u2010pituitary function should be evaluated in this patient population. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30248","type":"journal-article","created":{"date-parts":[[2004,6,11]],"date-time":"2004-06-11T23:02:12Z","timestamp":1086994932000},"page":"62-63","source":"Crossref","is-referenced-by-count":13,"title":["Endocrine abnormalities in patients with Jacobsen (11q\u2212) syndrome"],"prefix":"10.1002","volume":"129A","author":[{"given":"Marjan","family":"Haghi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asheesh","family":"Dewan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth Lee","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Reitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Grossfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,7,15]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"698","article-title":"A novel genetic thrombocytopenia (Paris\u2010Trousseau) associated with platelet inclusions, dysmegakaryopoiesis, and chromosome deletion at 11q23","volume":"316","author":"Favier R","year":"1993","journal-title":"Acad Sciences"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30090"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152624"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2123"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/376145a0"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.8.1201"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<222::AID-AJMG5>3.0.CO;2-S"},{"key":"e_1_2_5_9_1","first-page":"676","article-title":"Clinical and molecular characterization of patients with distal 11q deletions","volume":"56","author":"Penny LA","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.9.772"},{"key":"e_1_2_5_11_1","first-page":"1427","volume-title":"Williams textbook of endocrinology","author":"Reiter EO","year":"1998"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01105.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1101\/gr.9.1.44","article-title":"Localisation of Jacobsen syndrome breakpoints on a 40\u2010Mb physical map of distal chromosome 11q","volume":"9","author":"Tunnacliffe A","year":"1999","journal-title":"Genome Res"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446287"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30248","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30248","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T22:25:57Z","timestamp":1696976757000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7,15]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,8,15]]}},"alternative-id":["10.1002\/ajmg.a.30248"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30248","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,7,15]]}}}