{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T13:58:13Z","timestamp":1789912693531,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5013,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 14 males from 3 successive generations in a family who have X\u2010linked mental retardation (XLMR), obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet. Linkage analysis using markers spread along the X chromosome demonstrated a gene localisation close to the centromere. Maximum lod scores for markers near the centromere, all at \u03b8= 0.00, were 1.36 for <jats:italic>DXS7<\/jats:italic>, 4.82 for <jats:italic>DXS255<\/jats:italic>, 2.79 for <jats:italic>DXS14<\/jats:italic>, 2.09 for <jats:italic>DXS72<\/jats:italic>, and 1.46 for <jats:italic>DXYS1<\/jats:italic>. The closest flanking markers which showed recombination were <jats:italic>DXS84<\/jats:italic>, and <jats:italic>DXS94<\/jats:italic>, defining the physical localisation within Xp21.1\u2010q22. <jats:italic>DXS255<\/jats:italic> was fully informative with lod\u20101 confidence interval for \u03b8 of 0.00\u20130.12. Clinical findings and linkage data in this family distinguish it from the B\u00f6rjeson\u2010Forssman\u2010Lehmann syndrome and other previously described XLMR syndromes.<\/jats:p>","DOI":"10.1002\/ajmg.1320400405","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:26:01Z","timestamp":1118550361000},"page":"406-413","source":"Crossref","is-referenced-by-count":57,"title":["New X\u2010linked syndrome of mental retardation, gynecomastia, and obesity is linked to <i>DXS255<\/i>"],"prefix":"10.1002","volume":"40","author":[{"given":"Meredith","family":"Wilson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Mulley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agi","family":"Gedeon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazel","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300150"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300129"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111888"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1962.tb04162.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1988.7.27"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132186"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140413"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070407"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132810"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132801"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340403"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340404"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270222"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300130"},{"key":"e_1_2_1_17_1","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott J","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300152"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300151"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340402"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.2.109"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400405","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T08:15:39Z","timestamp":1698048939000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,9,15]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,9,15]]}},"alternative-id":["10.1002\/ajmg.1320400405"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400405","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,9,15]]}}}