'Pseudo-dominant' inheritance in Friedreich's ataxia.
A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when counselling patients with this disorder.
D001259:Ataxia / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008433:Mathematics; D010375:Pedigree