Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia |
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Authors: | M L Kwee E H A Poll J J P van de Kamp H de Koning A W Eriksson H Joenje |
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Institution: | (1) Institute of Human Genetics, Free University, P.O. Box 7161, NL-1007 MC Amsterdam, The Netherlands;(2) Clinical Genetics Centre, Academic Hospital, Rijnsburgerweg 10, NL-2333 AA Leiden, The Netherlands;(3) Department of Pediatrics, Academic Hospital, Rijnsburgerweg 10, NL-2333 AA Leiden, The Netherlands |
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Abstract: | Summary Chromosomal breakage frequencies were determined in Fanconi anaemia (FA) blood cultures treated with various concentrations of the polyfunctional alkylating agents mitomycin C, diepoxybutane, and cis-platinum(II)-diammine-dichloride, for which FA cells have a characteristic hypersensitivity. At concentrations that hardly affected control cultures, three out of four patients tested exhibited a concentration-dependent increase of cells with aberrant chromosomes, with a concomitant increase in the number of chromosomal aberrations per aberrant cell. The fourth patient, a 22-year-old male, was exceptional because with all three clastogens only 40% of his cultured cells exhibited a typical concentration-dependent response, while 60% of his cells responded like those from normal healthy controls. The possible nature and significance of this unusual response is discussed. |
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