Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.
Two patients with Wilms tumor, iris dysplasia (complete aniridia in one and subtle iris defects in the other), normal karyotypes, and no gene loss demonstrable by enzyme marker and direct DNA analyses are presented. The findings indicate that aniridia and less severe iris defects define a risk for Wilms tumor even in the absence of del (11p13), and that there is as yet no consistent biochemical genetic marker for the aniridia-Wilms tumor association.
D000293:Adolescent; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D007680:Kidney Neoplasms / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*