Chromosome breakage syndrome and fragile X syndrome
Shiraishi, Y.
Nihon Rinsho. Japanese Journal of Clinical Medicine 53(11): 2807-2814
1995
ISSN/ISBN: 0047-1852 PMID: 8538049 Document Number: 440167
Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined human disorders collectively known as chromosome breakage syndromes. Included among the disorders are Bloom's syndrome (BS), Fanconi's anemia (FA), ataxia telangiectasia (AT). In each of the syndromes chromosome instability exists in the form of increased frequencies of breaks and interchanges occurring either spontaneously or following treatment with various DNA-damaging agents. These diseases have in common an autosomal recessive transmission and an increased tendency to develop malignancies. The blood cells of subjects with AT, BS, or FA are significantly more radiosensitive than those of controls, particularly in the occurrence of chromosome aberrations.