{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T21:44:25Z","timestamp":1705095865925},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6583,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Linkage data using the markers <jats:italic>DXS51, F9, DXS15<\/jats:italic>, and <jats:italic>DXS52<\/jats:italic> are presented from 14 pedigrees segregating with the fragile X. Cytogenetic and DNA data were combined by two\u2010 or three\u2010point linkage analysis for estimation of lod scores and carrier probabilities in potential carriers. Recombination frequencies (<jats:styled-content>\\documentclass{article}\\pagestyle{empty}\\begin{document}$ \\hat \\theta $\\end{document}<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-1.gif\" xlink:title=\"equation image\" \/><\/jats:styled-content>) corresponding to maximum z scores (\u1e91) were obtained for <jats:italic>DXS51<\/jats:italic> (\u1e91 = 3.45, <jats:styled-content>\\documentclass{article}\\pagestyle{empty}\\begin{document}$ \\hat \\theta $\\end{document}<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-2.gif\" xlink:title=\"equation image\" \/><\/jats:styled-content> = 0.0), <jats:italic>DXS15<\/jats:italic> (\u1e91 = 0.40, <jats:styled-content>\\documentclass{article}\\pagestyle{empty}\\begin{document}$ \\hat \\theta $\\end{document}<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-3.gif\" xlink:title=\"equation image\" \/><\/jats:styled-content> = 0.06), <jats:italic>F9<\/jats:italic> (\u1e91 = 3.15, <jats:styled-content>\\documentclass{article}\\pagestyle{empty}\\begin{document}$\\hat \\theta $\\end{document}<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-4.gif\" xlink:title=\"equation image\" \/><\/jats:styled-content> = 0.09), and <jats:italic>DX552<\/jats:italic> (\u1e91 = 3.60, <jats:styled-content>\\documentclass{article}\\pagestyle{empty}\\begin{document}$\\hat \\theta $\\end{document}<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-5.gif\" xlink:title=\"equation image\" \/><\/jats:styled-content> = 0.11) with the fragile X. Considerable alterations to carrier probabilities occurred in some cases, especially when flanking markers were informative. The chance of mentally impaired offspring was reduced to 1% for five of eight women with prior carrier probabilities of 32%. Three pedigrees were identified in which mutation had possibly occurred. An alternative explanation for two of these was inheritance of the fragile X from normal males and for the other inheritance from a clinically normal woman. Probabilities were computed for each of these alternatives.<\/jats:p>","DOI":"10.1002\/ajmg.1320270222","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:52:19Z","timestamp":1118544739000},"page":"435-448","source":"Crossref","is-referenced-by-count":34,"title":["Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14"],"prefix":"10.1002","volume":"27","author":[{"given":"John C.","family":"Mulley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agi K.","family":"Gedeon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerry A.","family":"Thorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyndall J.","family":"Bates","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grant R.","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295659"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230158"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273451"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.4059909"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230159"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230161"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132178"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230160"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260106"},{"key":"e_1_2_1_11_1","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop GM","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","unstructured":"MulleyJC SutherlandGR(1987):Letter to the editor: Fragile X transmission and the determination of carrier probabilities for genetic counselling. Am J Med Genet (in press).","DOI":"10.1002\/ajmg.1320260430"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.4.1016"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1978.tb00657.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210413"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291644"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1984.tb00830.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291888"},{"key":"e_1_2_1_19_1","first-page":"573","article-title":"Induction of fragile sites in fibroblasts","volume":"38","author":"Sutherland GR","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","volume-title":"Fragile Sites on Human Chromosomes","author":"Sutherland GR","year":"1985"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132180"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270222","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T17:19:09Z","timestamp":1697908749000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,6]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,6]]}},"alternative-id":["10.1002\/ajmg.1320270222"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270222","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,6]]}}}