Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity.

Abstract

We identified a subgroup of ataxia-telangiectasia (AT) patients (2 sibs and 1 unrelated case) characterized by typical clinical manifestations of the disease and cellular radiosensitivity intermediate between classical AT and normal subjects. Our data and a literature review of the intermediate radiosensitivity AT cases show that radioresistant DNA synthesis, cellular radiosensitivity (measured in terms of survival and chromosome breakage), and the clinical hallmarks behave independently. This raises a number of interesting questions about the correlation between radiobiological and clinical features, and about the nature of the AT gene(s).

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@article{Chessa1992HeterogeneityIA, title={Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity.}, author={Luciana Chessa and Paola Petrinelli and Alessandro Antonelli and Massimo Fiorilli and Raffaella Elli and Liana Marcucci and Antonio Federico and Enrico Gandini}, journal={American journal of medical genetics}, year={1992}, volume={42 5}, pages={741-6} }