Article
Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect.
American journal of medical genetics - 15 Jul 1994
Shapiro L R, Simensen R J, Wilmot P L, Fisch G S, Vibert B K, Fenwick R G, Tarleton J, Phelan M C
Abstract excerpt
The full FMR-1 mutation is known to cause the fragile X syndrome [Fra(X)], but variable expression in females, including normal to deficient intellect, may be related to random X-inactivation (lyonization). We have evaluated 2 mosaic 45,X/46,XX females who are cytogenetically fra(X) positive, have an FMR-1 full mutation, and are of normal intellect. There were 50% fra(X) chromosomes in the 45,X cells of one of...
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