CHROMOSOMAL PECULIARITIES AND IN VITRO EXAMINATIONS IN FANCONIS ANAEMIA

2 cases of Fanconi's anaemia exhibiting chromosomal aberrations characteristic for this syndrome (spontaneous breaks, translocation figures, endomitoses) are described. In both cases the ATP-level, and in one the hexokinase activity were normal. An increased chromosomal breakage after addition of an alkylating agent, tetrametansulfonil-d-mannit to the peripheral blood cultures was shown. The increased breakage was thought to be caused by an altered structure of the chromosomes in this syndrome. We suggest that the increased breakage of the chromosomes is an important change in Fanconi's anaemia, which is responsible for the more frequent occurence of leukaemia and of other malignancies in these patients. In the heterozygotes we could not find any aberrations. In one of our cases we tried treatment with PHA i.v., but without success. © 1969 Springer-Verlag.