Computer-Assisted Analysis of Chromosomal Abnormalities: Detection of a Deletion in Aniridia/ Wilms' Tumor Syndrome
- 30 August 1974
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 185 (4153) , 784-787
- https://doi.org/10.1126/science.185.4153.784
Abstract
A chromosome translocation, t(8p + ; 11q -), in a patient with aniridia and Wilms' tumor, appeared balanced by standard techniques, including trypsin banding. Computer analysis of optical microscope scanning profiles of chromosome pairs 8 and 11 revealed an interstitial deletion of the short arm of 8. Computer analysis coupled to the new banding techniques provides greater resolution for the detection of subtle chromosomal variations not recognized by banding methods alone.Keywords
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