{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T17:10:08Z","timestamp":1735751408294,"version":"3.32.0"},"reference-count":13,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":6247,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,5]]},"abstract":"Abstract<\/jats:title>Linkage data using the markersF9<\/jats:styled-content>,DXS105<\/jats:styled-content>(cX55.7),DXS98<\/jats:styled-content>(4D\u20108) andDXS52<\/jats:styled-content>(St14) are presented from 22 kindreds segregating with the fragile X. Two\u2010point linkage analysis was carried out taking into account cytogenetic results and penetrance classes defined by mental impairment status of mothers. Recombination frequencies (\u03b8) corresponding to the maximum z scores (\u1e90) were obtained betweenF9<\/jats:styled-content>(\u1e90 = 3.48, \u03b8= 0.18),DXS105<\/jats:styled-content>(\u1e90 = 5.06, \u03b8= 0.07),DXS98<\/jats:styled-content>(\u1e90 = 4.79, \u03b8= 0.01) andDXS52<\/jats:styled-content>(\u1e90 = 6.44, \u03b8= 0.09) and the fragile X. Recombination frequencies between marker loci in fragile X families are also presented.<\/jats:p>These recombination frequencies need to be combined with those from other studies in order to determine the best estimates of map distances for use in genetic counselling, until markers closer to the fragile X, or at the fragile X, can be used. Most potential fra(X) heterozygotes were informative for flanking markers using the above 4 probes. Carrier risks were determined by 3\u2010point analysis using informative flanking markers, taking into account cytogenetic results. Low level fra(X) expression occurred in 2 probable non\u2010carriers; emphasising the need for extreme caution in the interpretation of low rates of expression.<\/jats:p>","DOI":"10.1002\/ajmg.1320300158","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:16:11Z","timestamp":1118546171000},"page":"567-580","source":"Crossref","is-referenced-by-count":15,"title":["Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D\u20108) and DXS105 (CX55.7)"],"prefix":"10.1002","volume":"30","author":[{"given":"John","family":"Mulley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gillian","family":"Turner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Bain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grant R.","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)90103-6"},{"key":"e_1_2_1_3_1","unstructured":"DaviesKE MandelJL WeissenbachJ FellousM(1988): Report of the committee on the genetic constitution of the X and Y chromosomes. Human Gene Mapping 9.Cytogenet Cell Genet(in press)."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.4059909"},{"key":"e_1_2_1_5_1","first-page":"312","article-title":"Efficient isolation of X chromosome\u2010specific single\u2010copy probes from a cosmid library of a human X\/hamster hybrid\u2010cell line: Mapping of new probes close to the locus for X\u2010linked mental retardation","volume":"40","author":"Hofker MH","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_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_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/324161a0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270222"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260430"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.20.120186.000545"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7696(08)62336-0"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","unstructured":"SuthersGK TurnerG MulleyJC(1988): Case report: Fragile X syndrome and nephrogenic diabetes insipidis.Am J Med Genet(this issue).","DOI":"10.1002\/ajmg.1320300123"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-8342-4_2"},{"key":"e_1_2_1_14_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.1320300158","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320300158","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T16:39:09Z","timestamp":1735749549000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320300158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":13,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1002\/ajmg.1320300158"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320300158","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"type":"print","value":"0148-7299"},{"type":"electronic","value":"1096-8628"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}