Download Advances in Human Genetics 9 by David G. Harnden, A. M. R. Taylor (auth.), Harry Harris, PDF

By David G. Harnden, A. M. R. Taylor (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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M. R. Taylor many different (and speculative) ways of interpreting these preliminary results, it is probably better to leave it at that for the time being and plead for further studies to be done. 137 However, using conventional staining, it has been recognized for some time that neuroblastomas usually have aneuploid chromosome complements (references in Atkin 7 and Mark 167). There are, however, two curious cytogenetic features of this tumor that seem to make it of special interest. First, it is one of the tumors in which cases with large numbers of minute fragments or "double minutes" have been described.

40 from pleural effusions (or in one case a cerebral metastasis) of carcinoma ofthe breast, all have a marker in all cells, or in the majority of cells, that involves the distal portion of the long arms of chromosome 1. All are translocations, the breakpoint varies in each case, and the chromosome to which the segment of No. 1 is translocated also varies, but on 2 occasions it is number 11 and on 2 occasions it is number 12. It must be remembered that in cell culture there may be selection for specific cell types, and this could suggest that the presence of additional material from the long-arm of chromosome number 1 in the absence of short-arm material might confer some advantage on a cell line where proliferation is rapid.

285 The basic unit of aberration seems likely to be an unrepaired DNA double-strand break, but a singlestrand break may be sufficent, at Go for example, to initiate the chromatid aberration seen at mitosis. AT cells are quite proficient in excising UVinduced damage. Significance of the Defects in These Syndromes. In the syndromes with DNA repair defects, therefore, a higher level of induced aberrations of the chromosomes can be seen compared with controls, following treatment with particular agents.

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