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Linkage analysis in a large family with nonspecific X-linked mental retardation

✍ Scribed by Glass, I. A. ;White, E. M. ;Pope, M. J. ;Pirrit, L. A. ;Cockburn, F. ;Connor, J. M.

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
629 KB
Volume
38
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an I& between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abilities and visual-psychomotor difficulties similar to those seen in affected males. Results of chromosome studies, including fragile X, were normal in males a n d females. Linkage analysis was undertaken, with 19 X-specific chromosomal restriction fragment length polymorphisms (RFLPs), giving a maximal LOD score of 1.60 at a 0.10 recombination fraction for F9, suggesting a localization to distal Xq for the mutant gene in this family.

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