{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:25:38Z","timestamp":1790414738248,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,12,14]],"date-time":"2005-12-14T00:00:00Z","timestamp":1134518400000},"content-version":"vor","delay-in-days":3849,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1995,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Marfan syndrome (MFS) is a heritable connective tissue disorder characterized by skeletal, ocular, and cardiovascular abnormalities. Defects in fibrillin, an elastin\u2010associated microfibrillar protein, are now known to cause MFS. Since the discovery of fibrillin as the gene responsible for MFS, requests for prenatal and presymptomatic diagnosis have become common\u2010place. Here we report the use of the polymerase chain reaction (PCR), using fluorescence labelled primers and an automated sequencer, to establish linkage data for \u201cmolecular diagnosis\u201d. The mistaken clinical diagnosis of MFS based on the appearance of a common cardiovascular manifestation, mitral valve prolapse, and a positive family history is also discussed.<\/jats:p>","DOI":"10.1002\/pd.1970150602","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T11:18:31Z","timestamp":1173007111000},"page":"499-507","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal and presymptomatic diagnosis of the marfan syndrome using fluorescence pcr and an automated sequencer"],"prefix":"10.1002","volume":"15","author":[{"given":"Mei","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Mata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher E.","family":"Price","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick L.","family":"Iversen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurice","family":"Godfrey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,12,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.12.2135"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290316"},{"key":"e_1_2_1_4_1","first-page":"46","article-title":"Autosomal dominant Marfan\u2010like connective tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes","volume":"53","author":"Boileau C.","year":"1993","journal-title":"Am. 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