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    3038 Hennepin Ave Minneapolis, MN
    612-822-4611

Open Daily: 10am - 10pm | Alley-side Pickup: 10am - 7pm
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Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects

Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects

Schroeder-Kurth, Traute M.
Auerbach, Arleen D.
Obe, Günter

Paperback

Medical ReferenceGenetics

ISBN10: 3642741819
ISBN13: 9783642741814
Publisher: Springer Nature
Published: Dec 10 2011
Pages: 264
Weight: 1.02
Height: 0.60 Width: 6.69 Depth: 9.61
Language: English
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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