11p13 Deletion and Reduced RBC Catalase in a Patient with Aniridia,Glaucoma and Bilateral Wilms’ Tumor

Abstract

A rare case of a one-year-old child with Wilms’ tumor, aniridia and glaucoma is described, in whom bone marrow chromosome analysis showed the presence of an interstitial micro-deletion on the short arm of chromosome 11, presumably involving the pl3 band. Research of the enzyme activity of RBC catalase showed a 40% reduction. This finding is compatible with the loss of the 11p13 band which contains the gene coding this enzyme. 11p13 deletion in Wilms’ tumor and 13q interstitial deletion in retinoblastoma provide a rare case of pre-zygotic chromosome abnormality, which may be considered to have a determinant role in the tumor etiopathogenesis.