'Pseudo-dominant' inheritance in Friedreich's ataxia.
نویسندگان
چکیده
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.
منابع مشابه
A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 18 4 شماره
صفحات -
تاریخ انتشار 1981