Fanconis anaemia FA

Although not strictly a syndrome of radiosensitivity, FA is important because cells show sensitivity to DNA cross-linking and alkylating agents. FA is diagnosed by the presence of chromosomal aberrations when cells are exposed to mitomycin-C. Phenotypically, a number of characteristics may be seen:

♦ Absent thumbs and radius.

♦ Growth retardation.

♦ Bone marrow failure.

♦ Early susceptibility to cancer.

Five different complementation groups of FA have been described; genes for two—groups FAA and FAC—have been cloned. Individually, both lie within cytoplasm but combine to form a complex of unknown function in nucleus.

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