{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T05:56:54Z","timestamp":1779256614091,"version":"3.51.4"},"reference-count":22,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,7]]},"abstract":"<jats:p>Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected child. The results of this analysis predicted that the child would be affected. As predictions of the severity of the disease were not possible, the pregnancy was also assessed by ultrasound imaging. This confirmed the affected diagnosis and predicted that the child would be severely affected.<\/jats:p>","DOI":"10.1136\/jmg.33.7.603","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"603-606","source":"Crossref","is-referenced-by-count":49,"title":["Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging."],"prefix":"10.1136","volume":"33","author":[{"given":"S J","family":"Edwards","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Fowlie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M P","family":"Cust","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D T","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I D","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1111\/j.1365-2273.1981.tb01782.x","article-title":"The ear deformities in mandibulofacial dysostosis","volume":"6","author":"Phelps, P.D.; Poswillo, D.; Lloyd, G.A.S.","year":"1981","unstructured":"Phelps PD, Poswillo D, Lloyd GAS. The ear deformities in mandibulofacial dysostosis. Clin Otolaryngol 1981;6: 15-28.","journal-title":"Clin Otolaryngol"},{"key":"ref_2","first-page":"96","article-title":"Treacher Collins syndrome: correlation between clinical and genetic linkage studies","volume":"3","author":"Dixon, M.J.; Marres, H.A.M.; Edwards, S.J.; Dixon, J.; Cremers, C.W.R.J.","year":"1994","unstructured":"Dixon MJ, Marres HAM, Edwards SJ, Dixon J, Cremers CWRJ. Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol 1994; 3:96-103.","journal-title":"Clin Dysmorphol"},{"key":"ref_3","first-page":"274","article-title":"Association of Treacher Collins syndrome and translocation 6p2l.31\/16pl3.11: exclusion of the locus from these candidate regions","volume":"48","author":"Dixon, M.J.; Haan, E.; Baker, E.","year":"1991","unstructured":"Dixon MJ, Haan E, Baker E, et al. Association of Treacher Collins syndrome and translocation 6p2l.31\/16pl3.11: exclusion of the locus from these candidate regions. Am Jf Hum Genet 1991;48:274-80.","journal-title":"Am Jf Hum Genet"},{"key":"ref_4","first-page":"17","article-title":"The gene for Treacher Collins syndrome maps to the long arm of chromosome 5","volume":"49","author":"Dixon, M.J.; Read, A.P.; Donnai, D.; Colley, A.; Dixon, J.; Williamson, R.","year":"1991","unstructured":"Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am Hum Genet 1991; 49:17-22.","journal-title":"Am Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1093\/hmg\/1.4.249","article-title":"Genetic and physical mapping of the Treacher Collins syndrome locus. 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