Variant forms of ataxia telangiectasia. Issue 11 (November 1987)

• Record Type: Journal Article
• Authors: Taylor, A M; Flude, E; Laher, B; Stacey, M; McKay, E; Watt, J; Green, S H; Harding, A E
• Is Part Of: Journal of medical genetics. Volume 24:Issue 11(1987)
• Page Start: 669
• Page End: 677
• Publication Date: 1987-11
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.24.11.669
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.