Genetik der Ataxie - Teleangiectasie

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Abstract
SUMMARY: The syndrome of ataxia-telangiectasia was studied from a genetic standpoint on a material consisting of 7 original cases from four families, and of 31 cases from the literature. A cytogenetic analysis in one patient showed the normal diploid chromosome number, while the application of Brugger's test showed a random distribution of affected members in the investigated sibships. The observed frequency of affected individuals corresponds to the one to be expected, assuming a recessive monofactorial inheritance of the syndrome. Considering the small number of consanguineous marriages observed between parents of affected individuals, the conclusion can be drawn that ataxia-telangiectasia is not so rare a condition as it is generally assumed. The responsible gene shows a pleiotropic and lethal effect.

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