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Speech defects, other CNS disorders and minor physical changes such as \u201cbig\u201d ears or a highly arched palate were not present in many cases. Evidence for the existence of a clinical entity of mental retardation associated with the fragile site at Xq27 or 28 and macro\u2010orchidism is discussed. Genetic phenomena of reduced penetrance in males and of partial expression in females with respect to X\u2010linked recessive genes are examined. Consideration is given to the question of whether this type of mental retardation is due to X\u2010linked recessive or autosomal dominant sex\u2010limited genes. Most ascertained cases of X\u2010linked mental retardation are from families of northern European extraction. Recommendations are made regarding the diagnosis and counseling of X\u2010linked mental retardation cases.<\/jats:p>","DOI":"10.1002\/ajmg.1320070406","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:21:17Z","timestamp":1118496077000},"page":"443-460","source":"Crossref","is-referenced-by-count":57,"title":["Nonspecific X\u2010linked mental retardation I: A review with information from 24 new families"],"prefix":"10.1002","volume":"7","author":[{"given":"Diana S.","family":"Herbst","sequence":"first","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","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","first-page":"453","volume-title":"Mental Retardation","author":"Beier DC","year":"1964"},{"key":"e_1_2_1_4_1","first-page":"16","volume-title":"Mental Retardation","author":"Benton AL","year":"1964"},{"key":"e_1_2_1_5_1","series-title":"BD:OAS","first-page":"224","volume-title":"Natural History of Specific Birth Defects","author":"Biederman B","year":"1977"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020410"},{"key":"e_1_2_1_7_1","first-page":"115","article-title":"Recurrence risks in severe undiagnosed mental deficiency","volume":"18","author":"Bundey S","year":"1974","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447283"},{"key":"e_1_2_1_9_1","unstructured":"Census of Canada(1971):Population Ethnic Groups. 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