{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:26:36Z","timestamp":1791203196184,"version":"4.2.0"},"reference-count":21,"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":8099,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An epidemiological study was carried out on the group of moderately retarded brothers (IQ, 30\u201355) identified by Turner and Turner [1974]. Of the original 58 sets of brothers, 54 sets (now 17 to 32 years old) were traced; another four sets (missed in the earlier survey) were added. Forty\u2010five of the 58 pairs were diagnosed as having nonspecific X\u2010linked mental retardation (MR) giving an overall frequency of 5.57 moderately retarded males\/10,000 male births. In 12 of the 45 families, affected males had the fragile(X) and macroorchidism; six had macroorchidism alone, giving a frequency of 2.8 moderately retarded males with X\u2010linked MR and macroorchidism \u00b1 the fragile(X) per 10,000 males. Corresponding heterozygote frequencies are 7.34 and 3.65\/10,000 females respectively. A new subgrouping of nonspecific X\u2010linked mental retardation is described in six families: <jats:italic>X<\/jats:italic>\u2010<jats:italic>linked MR<\/jats:italic>, <jats:italic>macroorchidism without the fragile(X)<\/jats:italic>. Three other X\u2010linked conditions were identified: in one family, the Coffin\u2010Lowry syndrome, in another, Duchenne muscular dystrophy, and in two families X\u2010linked MR and muscle atrophy. Half (56%) of the obligatory carriers of fra(X)\u2010MR in this study were dull to mildly retarded. The mildly retarded heterozygotes had a significantly higher percentage of fra(X) expressing lymphocytes as compared to the intellectually normal heterozygotes. When the three types of nonspecific X\u2010linked MR for which population frequencies were calculated were considered together, half of the obligatory carriers (46%) were dull or mildly retarded, thus confirming that this condition is a significant cause of mild intellectual handicap in females.<\/jats:p>","DOI":"10.1002\/ajmg.1320140413","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:49Z","timestamp":1118504089000},"page":"713-724","source":"Crossref","is-referenced-by-count":90,"title":["The diagnosis and frequency of X\u2010linked conditions in a cohort of moderately retarded males with affected brothers"],"prefix":"10.1002","volume":"14","author":[{"given":"Jane","family":"Fishburn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Art","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross","family":"Brookwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"325","article-title":"Some examples of the inheritance of mental deficiency: Apparently sex\u2010linked idiocy and microcephaly","volume":"48","author":"Allan W","year":"1944","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130206"},{"key":"e_1_2_1_4_1","first-page":"65a","article-title":"The marker X chromosome among families with and without histories of X\u2010linked mental retardation. 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