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 Chromosome Instability syndrome  

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Anybody can help me explain about Chromosome instability syndrome? What is that? I read in Goljan that the examples are: Ataxia Telangiectasia, Bloom's syndrome, and Fanconi syndrome. Thanks.


These diseases are characterized by a high level of spontaneous chromatid breaks and chromosome rearrangements, and/or a hypersensitivity to clastogens (substances/organisms that can trigger a mutation). The genes implicated in these diseases seem to have a role in DNA repair and/or in the cell cycle regulation. If lesions into DNA are not correctly repaired, mutations and rearrangements will accumulate, until, by chance, one of these mutations results in the activation of an oncogene or in the inactivation of the allele(s) of a tumor suppressor gene.


Thanks Meg. It's very helpful. You are good. Good luck with your exam!

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