Read e-book online Advances in Human Genetics 9 PDF

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

ISBN-10: 1461582768

ISBN-13: 9781461582762

ISBN-10: 1461582784

ISBN-13: 9781461582786

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13 reports a pseudodiploid karyotype in all the cells of a single case of poorly differentiated carcinoma. By conventional staining, there is a chromosome lacking from the E group and an additional one in the B group. Mark/6s using G-banding, describes two primary cases also with a clear-cut stem line and with pseudodiploid karyotypes in the majority of the cells. In this case, however, the abnormalities are seen to be very complex. Simple trisomy or monosomy accounts for a proportion of the abnormalities, but in both cases, marker chromosomes are present that cannot be explained on the basis of simple rearrangements.

R. Taylor number (the most common chromosome count in a tumor at the moment it is observed in a direct preparation) is of only limited usefulness. Counts indicate only that the cells of the tumor are near-diploid, near-tetraploid, or of some other value. Only cells that have been analyzed are likely to help in defining the chromosome complement ofthe tumor. Such analysis may reveal abnormalities of several different kinds: 1. Numerical abnormalities, in which whole chromosomes are missing or in which there is an additional chromosome of totally normal morpholgy.

A deletion of part of a G chromosome to give a PhI-like chromosome has been described in a small number of lymphocytes and bone-marrow cells from several irradiated subjects. 86,119 Since these studies were undertaken before G banding was available, little more can be added. In a population of 5 x 10 tO lymphocytes in man, any detectable clone (usually 3 or more cells in 100 cells analyzed) will represent many millions of cells in the body, and there must be undetected clones that might appear occasionally as a single cell with a stable rearrangement during analysis.

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


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