{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T21:08:50Z","timestamp":1790543330920,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7093,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Forty patients with fragile X [fra(X)] or Martin\u2010Bell syndrome, confirmed by chromosome analysis, underwent full cardiac evaluation including physical examination, chest film, electrocardiography (ECG), and M\u2010mode and 2\u2010dimensional echocardiography. Thirty\u2010four males and six females were studied. Although all patients were asymptomatic, seven males were found to have mild aortic root dilatation. All seven also had evidence of mitral valve prolapse. Twenty\u2010two (55%) of the study patients had mitral valve prolapse with either a click or murmur heard on physical examination and confirmation by\tM\u2010mode echocadiogaphy.The\tfrequency of mitral valve prolapse was the same\tin males and females, but 80% of males older than 18 years had mitral valve prolapse. These findings support the hypothesis of a connective tissue dysplasia in the fra(X) syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320230113","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:02:23Z","timestamp":1118520143000},"page":"189-194","source":"Crossref","is-referenced-by-count":55,"title":["Aortic root dilatation and mitral valve prolapse in the fragile X syndrome"],"prefix":"10.1002","volume":"23","author":[{"given":"James P.","family":"Loehr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David P.","family":"Synhorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert R.","family":"Wolfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randi J.","family":"Hagerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(75)90906-6"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447283"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.50.1.33"},{"key":"e_1_2_1_5_1","first-page":"549","volume-title":"Echocardiography","author":"Feigenbaum H","year":"1981"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.1870070606"},{"key":"e_1_2_1_7_1","first-page":"204","volume-title":"Atlas of Pediatric Echocardiography","author":"Gutgesell HP","year":"1978"},{"key":"e_1_2_1_8_1","first-page":"17","volume-title":"The Fragile X Syndrome: Diagnosis, Biochemistry and Intervention","author":"Hagerman RJ","year":"1983"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170107"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170106"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.57.2.278"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(85)90543-5"},{"key":"e_1_2_1_13_1","first-page":"229","volume-title":"The Fragile X Syndrome: Diagnosis, Biochemistry and Intervention","author":"McGavran L","year":"1983"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970380064013"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170105"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.49.3.428"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197904053001406"},{"key":"e_1_2_1_18_1","first-page":"231","article-title":"The marker Xq28 syndrome (fragile X syndrome) in a retarded male with mitral valve prolapse","volume":"151","author":"Pyeritz RE","year":"1982","journal-title":"Johns Hopkins Med J"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(85)80021-8"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320230113","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320230113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T11:34:32Z","timestamp":1693481672000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320230113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,1]]},"references-count":18,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1986,1]]}},"alternative-id":["10.1002\/ajmg.1320230113"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320230113","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,1]]}}}