Fanconi Anemia - Clinical, Cytogenetic and Experimental Aspects (Paperback, Softcover reprint of the original 1st ed. 1989)

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.

General

Imprint:	Springer-Verlag
Country of origin:	Germany
Release date:	December 2011
First published:	1989
Editors:	Traute M. Schroeder-Kurth • Arleen D. Auerbach • Gunter Obe
Dimensions:	244 x 170 x 15mm (L x W x T)
Format:	Paperback
Pages:	264
Edition:	Softcover reprint of the original 1st ed. 1989
ISBN-13:	978-3-642-74181-4
Categories:	Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics Books > Medicine > Clinical & internal medicine > Haematology Books > Medicine > Clinical & internal medicine > Gynaecology & obstetrics > General Books > Medicine > Clinical & internal medicine > Diseases & disorders > Oncology > General
LSN:	3-642-74181-9
Barcode:	9783642741814

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