By David G. Harnden, A. M. R. Taylor (auth.), Harry Harris, Kurt Hirschhorn (eds.)
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Additional info for Advances in Human Genetics 9
This is important, since in some cases the deletion is accompanied by congenital malformations that may be quite severe. The case of Howard et al. 113 was first studied because of severe mental retardation and congenital malformations, and it was only in the course of the clinical examination that three foci of retinoblastoma were found in the left eye. Cziezel et al. 42 point out that of 40 reported patients with a deletion of the long arm of chromosome 13,8 had retinoblastoma. Knudson et al. 140 developed the concept of a 13-deletion syndrome characterized by certain congenital malformations and having a high probability of developing retinoblastoma.
M. R. Taylor information about the clinical features of the cancer that is studied. 275 clearly distinguish the primary tumor from metastases and from effusions. In the following account, we have tried to indicate the clinical stage of the disease, but it is not always possible to do so. Very comprehensive reviews of the earlier work are given by Sandberg and Hossfeld 256 and by Atkin,7 while Mark l71 has reviewed some of the more recent material in specific areas. For this reason, the following brief review of specific tumors deals only with the more recent material that updates these previous reviews.
Cziezel et al. 42 point out that of 40 reported patients with a deletion of the long arm of chromosome 13,8 had retinoblastoma. Knudson et al. 140 developed the concept of a 13-deletion syndrome characterized by certain congenital malformations and having a high probability of developing retinoblastoma. It is important to recognize, however, that the patients with the 13 deletion represent only a small proportion of patients with retinoblastoma. Atkin 7 reviews briefly those cases with no constitutional abnormality, and it is quite clear that the majority of even familial cases will have -normal chromosomes.
Advances in Human Genetics 9 by David G. Harnden, A. M. R. Taylor (auth.), Harry Harris, Kurt Hirschhorn (eds.)