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Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects

Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects

          
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About the Book

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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Product Details
  • ISBN-13: 9783642741814
  • Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
  • Binding: Paperback
  • Height: 244 mm
  • No of Pages: 264
  • Series Title: English
  • Sub Title: Clinical, Cytogenetic and Experimental Aspects
  • Width: 170 mm
  • ISBN-10: 3642741819
  • Publisher Date: 10 Dec 2011
  • Edition: Softcover reprint of the original 1st ed. 1989
  • Language: English
  • Returnable: Y
  • Spine Width: 15 mm
  • Weight: 463 gr


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