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These include short stature, macrocephaly, \u201ccoarse\u201d facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism (volume &gt;25 ml). Chromosomes were normal including fragile X analysis. X\u2010ray findings of skull, spine, and hands were normal. The intellectually normal relatives do not resemble their affected relatives except for increased head size and testicular size. These findings suggest a new variant of XLMR different from fragile X\u2010linked MR, the Coffin\u2010Lowry syndrome, and other XLMR conditions.<\/jats:p>","DOI":"10.1002\/ajmg.1320210411","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:25Z","timestamp":1118519965000},"page":"697-705","source":"Crossref","is-referenced-by-count":46,"title":["A new X\u2010linked mental retardation syndrome"],"prefix":"10.1002","volume":"21","author":[{"given":"Joan F.","family":"Atkin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Flaitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shivanand","family":"Patil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilbur","family":"Smith","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":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447283"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970410010002"},{"key":"e_1_2_1_4_1","first-page":"205","article-title":"Mental retardation with osteocartilaginous anomalies","volume":"112","author":"Coffin GS","year":"1966","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_5_1","first-page":"243","article-title":"FUdR induction of the X Chromosome fragile site: Evidence for the mechanism of folic acid and thymidine inhibition","volume":"33","author":"Glover TW","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070407"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070408"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070404"},{"key":"e_1_2_1_9_1","first-page":"611","article-title":"A theory of X\u2010linkage of major intellectual traits","volume":"76","author":"Lehrke R","year":"1972","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02100170078009"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170109"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170110"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170103"},{"key":"e_1_2_1_14_1","series-title":"Special Rep Ser No. 229","volume-title":"A clinical and genetic study of 1280 cases of mental defect","author":"Penrose LS","year":"1938"},{"key":"e_1_2_1_15_1","first-page":"258","article-title":"Mental retardation, abnormal fingers, and skeletal anomalies: Coffin\u2010Lowry syndrome","volume":"124","author":"Procopis PG","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170113"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80357-X"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.2.109"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80552-X"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070403"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210411","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T09:52:04Z","timestamp":1695808324000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1002\/ajmg.1320210411"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210411","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}