Description: Fanconi Anemia Please note: this item is printed on demand and will take extra time before it can be dispatched to you (up to 20 working days). Clinical, Cytogenetic and Experimental Aspects Author(s): Traute M. Schroeder-Kurth, Arleen D. Auerbach, Gunter Obe Format: Paperback Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG, Germany Imprint: Springer-Verlag Berlin and Heidelberg GmbH & Co. K ISBN-13: 9783642741814, 978-3642741814 Synopsis 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. [tel] 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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Book Title: Fanconi Anemia
Number of Pages: 264 Pages
Language: English
Publication Name: Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects
Publisher: Springer-Verlag Berlin AND Heidelberg Gmbh & Co. KG
Publication Year: 2011
Subject: Medicine, Biology
Item Height: 244 mm
Item Weight: 502 g
Type: Textbook
Author: Arleen D. Auerbach, Traute M. Schroeder-Kurth, Gunter Obe
Item Width: 170 mm
Format: Paperback
