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

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Extra resources for Advances in Human Genetics 9

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This would make the spontaneous occurrence of the 7/14 translocation in normal subjects at a frequency of 4 x 10-4 very high. It would seem of value, therefore, to continue to collect documentation not only on clones in patients with the chromosome-breakage syndromes, but also on the rare translocations found in normal subjects. In man, the only case in which there is association between a possible virus-induced cancer and a particular chromosome abnormality is the 14q+ chromosome in Burkitt's tumor already discussed.

Tumors that are radiation-induced occur frequently in treated retinoblastoma patients. 250 However, the mutation that predisposes to retinoblastoma also appears to give these patients an increased risk of osteosarcoma in sites other than irradiated areas. 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.

71 the deleted chromosome is a 22, though the site of the translocation was not detected. There are other reasons for believing that we are not dealing with an unusual presentation of CML in all three 36 David G. Harnden and A. M. R. Taylor cases. , 236 there was an elevated level of terminal deoxynucleotidyl transferase, and the patient responded to therapy normal for ALL. In the case of Seeker-Walker and Hardy, 267,268 the PhI chromosome was seen not in the leukemic cells, but in lymphoid cells responsive to PHA.

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