Article
A fragile X family with high penetrance in females: risk heterogeneity?
Clinical genetics - 1 Jul 1992
Martínez F, Badía L, Prieto F
Abstract excerpt
A fragile X family is described which shows two interesting features. In a sibship of seven, the two males and four of the five females are affected with mental retardation. Since the only normal daughter is not a carrier, the penetrance of the fragile X mutation in carrier daughters is 100%. Nevertheless, the penetrance of this syndrome in affected daughters of normal mothers has been estimated at a third. Also,...
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