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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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135 Some pedigrees of retinoblastoma patients include relatives with sarcoma, but no retinoblastoma. 9l Increased tetraploidy has been shown to occur in cell cultures con- Chapter 1: Chromosomes and Neoplasia 19 taining epithelium (skin and colonic polyps) from Gardner syndrome patients. Lymphocyte cultures and connective-tissue cultures from the same patients did not show an increased tetraploidy. 44-46 Congenital Chromosomal Disorders The association of 13q - syndrome and retinoblastoma has already been discussed.

Taylor term cultures may be useful for some purposes, but are not helpful in evaluating the chromosome constitution of the tumor as it existed in the patient. A further sampling problem arises from the fact that a tumor is a mixture of malignant cells and stromal cells, and there is no reasonable way to distinguish these cells in a chromosome preparation. It can only be suggested that the histology of the tumor adjacent to the sample used for chromosome studies be considered carefully when interpreting the karyotype of the tumor.

The number of cases of each tumor examined adequately is very small, and there is already evidence that the rearrangements observed are not random. l7l ,180,209,244 The great need now is for precise documentation of even small numbers of well-banded cells from well-documented cases. Ideally, cytogenetics should be done in conjunction with good histology or hematology so that we know what kind of cancer we are dealing with, and good clinical evaluation so that the stage of the disease is well understood.

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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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