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Abnormalities of chromosome #13 in retinoblastomas from individuals with normal constitutional karyotypes
Authors:Gloria Balaban  Fred Gilbert  Warren Nichols  Anna T. Meadows  Jerry Shields
Affiliation:1. Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, USA;2. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA;3. Institute for Medical Research, Camden, New Jersey, USA;4. Wills Eye Hospital, Philadelphia, USA
Abstract:
Constitutional chromsome abnormalities have been associated with retinoblastoma, Wilms' tumor, and a familial form of renal cell carcinoma. For each tumor type, the particular chromosome segment involved in the observed rearrangements is different: in retinoblastoma, that segment is band q14 on chromosome #13. We now present evidence that in retinoblastoma, structural abnormalities involving the particular chromosome segment identified in the constitutional cases can also occur in the tumors of individuals with normal constitutional karyotypes. Six cases with retinoblastomas in one or both eyes were analyzed; deletions/rearrangements involving 13q14 were found in the tumor cell karyotypes of five of the six. These observations suggest that changes in a gene or genes at a common site (13q14) play a role in tumorigenesis in all forms of retinoblastoma, sporadic as well as heritable.
Keywords:Address requests for reprints to Dr. Gloria Balaban   Department of Human Genetics   195A Med Labs Bldg/G3   University of Pennsylvania   Philadelphia   PA 19104.
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