Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome)

Am J Med Genet. 1986 Jan-Feb;23(1-2):619-31. doi: 10.1002/ajmg.1320230156.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / psychology
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics
  • Intelligence
  • Male
  • Pedigree
  • Phenotype
  • Risk
  • Sex Chromosome Aberrations / genetics*