{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:47:22Z","timestamp":1780354042752,"version":"3.54.1"},"reference-count":23,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,10]]},"abstract":"<jats:p>A clinical and cytogenetic study has been made of subjects from families who have possible X linked mental retardation. The families were distinguished as those with a clinical diagnosis of Renpenning syndrome and those with other behavioural or physical abnormalities obviating such a diagnosis. All subjects with REnpenning syndrome carried a fragile Xq27-28 chromosome in more than 4% of their blood lymphocytes. In addition, two other families who did not have Renpenning syndrome but had similar clinical features also carried the fragile site Xq27-28. A female age effect was observed and one possible carrier of Renpenning syndrome exhibited the fragile X in 10% of her lymphocytes but was also mentally retarded. Subjects within the same family did not always exhibit the fragile site on a comparable proportion of their cells.<\/jats:p>","DOI":"10.1136\/jmg.18.5.366","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"366-373","source":"Crossref","is-referenced-by-count":40,"title":["The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation."],"prefix":"10.1136","volume":"18","author":[{"given":"R","family":"Proops","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Webb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1981,10,1]]},"reference":[{"key":"ref_1","first-page":"827","article-title":"Mental retardation as a sex-linked defect","volume":"67","author":"Dunn, H.G.; Renpenning, H.; Gerrard, J.W.; Miller, JR, Tabata; T, Fedoroff; S.","year":"1962","unstructured":"Dunn HG, Renpenning H, Gerrard JW, Miller JR, Tabata T, Fedoroff S. 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