{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T20:00:47Z","timestamp":1776542447977,"version":"3.51.2"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":9285,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Seven families with X\u2010linked mental retardation (MR) have been studied clinically and cytogenetically. All affected males in six of the families were found to have a fragile site on Xq in a number of their peripheral lymphocytes. The fragile site was not seen in any of the affected males in the seventh family. The affected males in the six families with the fragile X had a syndrome characterized by a variable degree of MR, macro\u2010orchidism, a characteristic repetitive, jocular speech, normal body proportions, and large jaws and ears.<\/jats:p><jats:p>The fragile X chromosome could only be detected in a proportion of female carriers and its frequency in females was found to be correlated with their mental status and to be inversely correlated with their age.<\/jats:p>","DOI":"10.1002\/ajmg.1320070408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:21:17Z","timestamp":1118496077000},"page":"471-489","source":"Crossref","is-referenced-by-count":179,"title":["X\u2010linked mental retardation: A study of 7 families"],"prefix":"10.1002","volume":"7","author":[{"given":"Patricia A.","family":"Jacobs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas W.","family":"Glover","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha","family":"Mayer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Fox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John W.","family":"Gerrard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry G.","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana S.","family":"Herbst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447283"},{"key":"e_1_2_1_3_1","first-page":"827","article-title":"Mental retardation as a sex\u2010linked defect","volume":"67","author":"Dunn HG","year":"1962","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.1.46"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00399389"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00120.x"},{"key":"e_1_2_1_7_1","first-page":"629","article-title":"Race distribution in X\u2010linked mental retardation with macro\u2010orchidism and fragile site in Xq","volume":"32","author":"Howard\u2010Peebles PN","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273509"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197903293001320"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","unstructured":"JenningsM HallJG HoehnH(1980):Significance of phenotypic and chromosomal abnormalities in X\u2010linked mental retardation (Martin\u2010Bell or Renpenning Syndrome). 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