## Abstract Ataxia telangiectasia (AT) is a human autosomal recessive disorder in which patients show a marked predisposition to malignant disease and cytogenetic abnormalities. We report here the levels of spontaneously occurring chromosome aberrations and particularly the presence of cytogenetica
Cytogenetic study of patients with ataxia-telangiectasia
β Scribed by N. P. Bochkov; Y. M. Lopukhin; N. P. Kuleshov; L. V. Kovalchuk
- Publisher
- Springer
- Year
- 1974
- Tongue
- English
- Weight
- 905 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0340-6717
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Background. Patients with ataxia-telangiectasia (A-T) are at an increased risk for developing lymphoid malignancies, yet the appropriate therapy remains unknown. Radiation therapy at conventional doses results in destruction of normal tissue, which has suggested that full-dose chemotherapy might res
## Abstract Fibroblast cultures derived from skin biopsies of patients with ataxiaβtelangiectasia had doubling times (mean of five lines: 29.9 Β± 0.6 hours) significantly longer than normal controls (means of ten lines: 22.4 Β± 0.5 hours).
This article summarizes the genetics and clinical features of ataxia telangiectasia (AT) and then reviews recent cytogenetic, cellular, and biochemical studies which support the hypothesis that a defect in DNA repair is responsible for the various manifestations of the disease. The biochemical evide