Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.
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 the normal range. We suggest that in this family aniridia is caused either by a submicroscopic deletion at the translocation breakpoint 11p13 or by a position effect on the same chromosome segment. Furthermore, the loci for aniridia and Wilms' tumor susceptibility are separate. It follows that the WAGR complex is caused by a mutation of more than one gene located at 11p13. The theoretical implications of a presumably defective allele causing a mendelian dominant phenotype are discussed.
D002871:Chromosome Banding; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D009396:Wilms Tumor / Q000235:genetics*