'Pseudo-dominant' inheritance in Friedreich's ataxia. Issue 4 (August 1981)

• Record Type: Journal Article
• Authors: Harding, A E; Zilkha, K J
• Is Part Of: Journal of medical genetics. Volume 18:Issue 4(1981)
• Page Start: 285
• Page End: 287
• Publication Date: 1981-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.4.285
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.