Journal of Medical Genetics
Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultured fibroblasts and PHA stimulated lymphocytes from these two patients showed a smaller increase of radiosensitivity than cells from other A-T patients, as measured by colony forming ability or induced chromosome damage respectively, after exposure to ionising radiation. The response of DNA synthesis to irradiation of these cells was, however, the same as for other A-T patients. Cells from a third patient with some clinical features of A-T but with a very protracted course also showed low levels of radiation induced chromosome damage, but colony forming ability and the response of DNA synthesis after irradiation were no different from cells of normal subjects. There was, however, an increased level of translocations and unstable chromosomal rearrangements in this patient's lymphocytes.
Original Publication Citation
Taylor, A.M., Flude, E., Laher, B., Stacey, M., McKay, E., Watt, J., . . . Harding, A.E. (1987). Variant forms of ataxia telangiectasia. Journal of Medical Genetics, 24(11), 669-677.
Taylor, A. M. R.; Flude, E.; Laher, B.; Stacey, Michael W.; McKay, E.; Watt, J.; Greens, S. H.; and Harding, A. E., "Variant Forms of Ataxia Telangiectasia" (1987). Bioelectrics Publications. 57.