RT Journal Article
SR Electronic
T1 'Pseudo-dominant' inheritance in Friedreich's ataxia.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 285
OP 287
DO 10.1136/jmg.18.4.285
VO 18
IS 4
A1 Harding, A E
A1 Zilkha, K J
YR 1981
UL http://jmg.bmj.com/content/18/4/285.abstract
AB 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.