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  • Title: Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome).
    Author: Froster-Iskenius U, McGillivray BC, Dill FJ, Hall JG, Herbst DS.
    Journal: Am J Med Genet; 1986; 23(1-2):619-31. PubMed ID: 3953672.
    Abstract:
    Evidence for the transmission of X-linked mental retardation through normal male carriers is reviewed in 6 kindreds. In these pedigrees we identified 15 unaffected males who likely had passed the gene on through their daughters. Fifty-one mentally retarded grandsons or great grandsons descended from these male carriers. In total, these males had 50 daughters with only 2 of them being of low intelligence. Two of the male carriers were recently identified through fra(X)- positive results in their mentally normal daughters. Among the sibs of these males, mentally retarded brothers were found in 3 families. This was unexpected since earlier observations suggested that the risk for mental retardation among sibs of nonmanifesting carriers is exceedingly low.
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