The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. Issue 5 (October 1981)

• Record Type: Journal Article
• Authors: Proops, R; Webb, T
• Is Part Of: Journal of medical genetics. Volume 18:Issue 5(1981)
• Page Start: 366
• Page End: 373
• Publication Date: 1981-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.5.366
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.