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| Language | English |
| Format | PDF (Premium Digital) |
| Ownership | Permanent download — yours forever |
Fanconi Anemia by Traute M Schroeder-Kurth
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.| ISBN 13 | 9783642741814 |
|---|---|
| ISBN 10 | 3642741819 |
| Author | Traute M Schroeder-Kurth |
| Condition | New |
| Binding Type | Paperback |
| Publisher | Springer |
| Year published | 2011-12-10 |
| Number of pages | 264 |
| Cover note | Book picture is for illustrative purposes only, actual binding, cover or edition may vary. |
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