HHT disease is inherited as an autosomal dominant trait. Snyder and Doan (1944) reported a possible instance of homozygosity, 2 affected parents had a stillborn offspring who had extensive angiomatous malformation of the viscera.
In a large Arab family in the Sahara, Muller et al. (1978) found 87 cases in 6 generations. Because of the extensive consanguinity in the kindred, a person considered to be homozygous was identified. In the case of 4 couples indicated in the pedigree, both partners were affected. The son of one such couple had a total of 13 children by 4 different wives. All the wives were unaffected; all the children were affected. According to the Bayes theory, the probability of homozygosity was estimated to be 0.99975. The father, who was the presumed homozygote and also the proband, had severe but no exceptionally unusual manifestations of the disease.
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16.04.2003, 09:56
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