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These results were concordant with those obtained by ultrasonography, and the phenotype of the fetus was correctly predicted in all cases. DNA analysis provides a reliable means of prenatal diagnosis in the first trimester of pregnancy.<\/jats:p>","DOI":"10.1136\/jmg.30.4.265","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"265-268","source":"Crossref","is-referenced-by-count":30,"title":["Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers."],"prefix":"10.1136","volume":"30","author":[{"given":"J","family":"H\u00e4stbacka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Salonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Laurila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"de la Chapelle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Kaitila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1097\/00005792-197201000-00003","article-title":"Diastrophic dwarfism","volume":"51","author":"Walker, B.A.; Scott, C.I.; Hall, J.G.; Murdoch, J.L.; McKusick, V.A.","year":"1972","unstructured":"Walker BA, Scott CI, Hall JG, Murdoch JL, McKusick VA. 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Proc Natl Acad Sci USA 1990;87:8056-9."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1016\/0888-7543(91)90021-6","article-title":"A linkage map spanning the locus for diastrophic dysplasia (DTD)","volume":"11","author":"Hastbacka, J.; Sistonen, P.; Kaitila, I.; Weiffenbach, B.; Kidd, K.K.; de la Chapelle, A.","year":"1991","unstructured":"Hastbacka J, Sistonen P, Kaitila I, Weiffenbach B, Kidd KK, de la Chapelle A. A linkage map spanning the locus for diastrophic dysplasia (DTD). Genomics 1991;11:968-73.","journal-title":"Genomics"},{"issue":"204-1","key":"ref_9","first-page":"1","article-title":"Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland","volume":"2","author":"Hastbacka, J.; de la Chapelle, A.; Kaitila, I.; Sistonen, P.; Weaver, A.; Lander, E.","year":"1992","unstructured":"Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E. 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Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1984","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. 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