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Sixty years ago, G. Fanconi published a paper entitled: "Familiiire
infantile pemiziosaartige Aniimie (pemizioses Blutbild und
Konstitu- tion)", in which he reported that this type of severe
aplastic anemia represents a hereditary disease distinct from other
pancytopenias of childhood (Fanconi 1927). Later this syndrome was
named Fan- coni anemia (FA; van Leeuwen 1933). A more recent study
of the genetics of FA confirmed that the syndrome is inherited in
an au- tosomal recessive manner (Schroeder et al. 1976). Prenatal
diagno- sis in FA families showed that about 25% of fetuses are
affected (Auerbach et al. 1985, 1986). In 1964, Schroeder et al.
discovered high frequencies of chro- mosomal aberrations in
cultured peripheral blood lymphocytes from patients with FA.
Schuler et al. (1969) reported that cells from FA patients are
particularly sensitive to the chromosome-breaking activity or
clastogenic effect of a polyfunctional alkylating agent. Since that
time, studies of baseline and induced frequencies of chromosomal
aberrations have been used for the identification of patients with
FA. There is now a large body of data concerning the possible
mechanism(s) underlying the hypersensitivity of FA cells to DNA
cross-linking agents, the biochemical basis for which is still
unknown. Complementation analysis, using cells from different FA
pa- tients, has demonstrated genetic heterogeneity in the syndrome.
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