Penetrance estimate of the fra(X) gene using Pointer versus direct estimate

Am J Med Genet. 1992;43(1-2):361-4. doi: 10.1002/ajmg.1320430156.

Abstract

Direct estimate of the penetrance of the fra(X) gene was compared with the estimate using the Pointer computer program. Direct estimate gave overall penetrances of 85% for male and 64% for female carriers. The estimates calculated by the Pointer program were 82% for males and 38% for females. It is argued that the use of the Pointer program gives incorrect estimates of the penetrance of the fra(X) gene.

Publication types

  • Comparative Study

MeSH terms

  • Female
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / psychology
  • Gene Frequency
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics
  • Intelligence
  • Male
  • Phenotype
  • Software