Counselling risk figures for fragile X carrier females of varying band sizes for use in predicting the likelihood of retardation in their offspring

Am J Med Genet. 1994 Jul 15;51(4):458-62. doi: 10.1002/ajmg.1320510432.


We have derived risk figures for fra(X) syndrome carrier mothers based on their DNA status. Clinical and molecular information was analysed in 200 carrier mothers and their offspring. Individuals were classified as affected by a requirement for special education. Risk figures were calculated using the genotype of the intellectually normal offspring in order to reduce ascertainment bias. Analysis was made on women with differing mutation size to predict the proportion of affected offspring. Using this method the following risk figures were derived: 1. For carrier women with an increase (delta) of 0.06-0.14 Kb, the risk for having an affected son was 29% (1 in 3.5) and 25% for daughters (1 in 4). This predicts an overall 73% chance of a normal child. 2. For delta size 0.15-0.24 Kb, the risk of having an affected son was 46% (1 in 2.2) and 32% for daughters (1 in 3.1), predicting a 61% chance of a normal child. 3. For delta size > 0.24 Kb, normal transmitting male offspring were not seen, i.e., the risk for males was 50% (1 in 2) and for females 32% (1 in 3.1) which predicts a 59% chance of a normal child.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Banding
  • DNA Mutational Analysis
  • DNA Primers
  • Female
  • Fragile X Syndrome / epidemiology
  • Fragile X Syndrome / genetics*
  • Gene Dosage
  • Genetic Counseling*
  • Heterozygote*
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Pregnancy
  • Pregnancy Outcome / genetics
  • Repetitive Sequences, Nucleic Acid
  • Risk Assessment
  • Sex Factors


  • DNA Primers