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The location of chromosome breaks in Bloom’s syndrome

 

作者: V. Lindgren,  

 

期刊: Cytogenetic and Genome Research  (Karger Available online 1981)
卷期: Volume 29, issue 2  

页码: 99-106

 

ISSN:1424-8581

 

年代: 1981

 

DOI:10.1159/000131556

 

出版商: S. Karger AG

 

数据来源: Karger

 

摘要:

The lymphocytes of a patient with Bloom’s syndrome were examined for chromosome abnormalities. The break points involved in the abnormalities in this patient were found to be nonrandom in their distribution, as was previously described in the literature in another case. It is preliminarily proposed that, in both cases, many more breaks occur in chromosomal areas which replicate their DNA late in the S phase of the cell cycle than would be expected by chance. The particularly severe manifestations of the disease in this patient, including an unusually high percentage of cells with chromosome abnormalities, tend to confirm the suggestion that Bloom’s syndrome may not simply be the result of one structural mutat

 

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