A comparison of the cytogenetic, clinical, and immunologic aspects of four "chromosome breakage syndromes" : ataxia telangiectasia, Bloom's syndrome, Fanconi's anemia and xeroderma pigmentosum

Some rare autosomal recessive diseases of humans have been reported to have in common a high frequency of spontaneous chromosome aberrations, developmental abnormalities, and a predisposition to malignancy. The three diseases most frequently mentioned in the so called ''chromosome breakage syndromes" are ataxia telangiectasia (AT) (also known as Louis Bar syndrome), Bloom's syndrome (BS), and Fanconi's anemia (FA). Some investigators have included xeroderma pigmentosum (XP) in that listing. The initial purpose of this investigation was to find if there were ample evidence for classification of all four diseases in one category. Thus the primary goal was to determine the kinds of cytogenetic aberrations reported in each disease. The secondary goal was to establish from the literature whether or not the entire genome in these diseases was randomly affected. The third goal was to discover similarities and differences in them that might elucidate the nature of the repair defect and its consequences at the cellular, tissue, and clinical levels of organization