Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects by Traute M. Schroeder-KurthFanconi Anemia: Clinical, Cytogenetic and Experimental Aspects by Traute M. Schroeder-Kurth

Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects

byTraute M. Schroeder-KurthEditorArleen D. Auerbach, Günter Obe

Paperback | December 10, 2011

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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.
Title:Fanconi Anemia: Clinical, Cytogenetic and Experimental AspectsFormat:PaperbackDimensions:264 pages, 24.4 × 17 × 0.01 inPublished:December 10, 2011Publisher:Springer-Verlag/Sci-Tech/TradeLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:3642741819

ISBN - 13:9783642741814

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Table of Contents

I Clinical and Therapeutical Aspects.- International Fanconi Anemia Registry: First Report.- Fanconi Anemia in The Netherlands.- Clinical Aspects of a Cluster of 42 Patients in South Africa with Fanconi Anemia.- Therapeutic Aspects of Fanconi Anemia.- Bone Marrow Transplantation for Fanconi Anemia.- II Spontaneous and Induced Chromosomal Breakage for Diagnosis of Patients with Fanconi Anemia and Their Relatives.- Diepoxybutane Test for Prenatal and Postnatal Diagnosis of Fanconi Anemia.- Chromosomal Breakage in Response to Cross-linking Agents in the Diagnosis of Fanconi Anemia.- Cytogenetic Studies in Fanconi Anemia: Induced Chromosomal Breakage and Cytogenetics of Leukemia.- Aplastic Anemia and Fanconi Anemia: Response of Lymphocytes to X-Rays and Mitomycin C.- Variation in Cellular Sensitivities Among Fanconi Anemia Patients, Non-Fanconi Anemia-Patients, Their Parents and Siblings, and Control Probands.- Significance of Cellular Sensitivity in a Group of Parents of Fanconi Anemia Patients.- Chromosomal Studies in Fanconi Anemia Heterozygotes.- III Investigations of the Defect in Fanconi Anemia Cells.- BrdU-Hoechst Flow Cytometry Links the Cell Kinetic Defect of Fanconi Anemia to Oxygen Hypersensitivity.- Oxygen Metabolism and Chromosomal Breakage in Fanconi Anemia.- Cellular Effects of Fanconi Anemia Genes and Their Correction by Microinjection.- Phenotypic and Genetic Heterogeneity in Fanconi Anemia, Fate of Cross-Links, and Correction of the Defect by DNA Transfection.- IV Complementation Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia.- Complementation and Gene Transfer Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia Using Cell Fusion and Microinjection of mRNA.- V Fanconi Anemia: The Family's Point of View.- Fanconi Anemia: The Family's Point of View.