Aniridia-Wilms' tumor association and 11p interstitial deletion
โ Scribed by J. P. Fryns; J. Beirinckx; E. Sutter; J. Derluyn; J. Francois; H. Berghe
- Publisher
- Springer
- Year
- 1981
- Tongue
- English
- Weight
- 360 KB
- Volume
- 136
- Category
- Article
- ISSN
- 0340-6997
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โฆ Synopsis
An 11p interstitial deletion is reported in a severely mentally retarded boy with aniridia, genito-urinary anomalies, and distinct craniofacial dysmorphism. At the age of 4 years a large Wilms' tumor of the right kidney was diagnosed.
๐ SIMILAR VOLUMES
A family with dominantly inherited aniridia in three generations is presented. All three patients had an apparently balanced chromosome translocation t(4;11)(q22;p13). The patients were otherwise clinically normal and without signs of Wilms' tumor; their erythrocyte catalase activities were within t
The association between aniridia and Wilms' tumor (WT) is well known. The availability of data on a large number of WT patients entered on the first and second National Wilms' Tumor Studies provided the opportunity to review which examination had been most effective in detecting the presence of WT i
## BACKGROUND. A candidate tumor suppressor gene, WT-1, is believed to have an important role in the pathogenesis of Wilms' tumor, especially that occurring in patients with congenital aniridia. ## METHODS. To obtain a stable tumor line to work with, Wilms' tumor tissue was serially transplante