Del11p13/nephroblastoma without aniridia.
A patient is reported with del11p13, low catalase level, nephroblastoma, chordee and cryptorchidism, no evident mental retardation, and with normal irides. This unique observation suggests the following order of loci in 11p13, from centromere to telomere: catalase, Wilms tumor, aniridia. The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia.
D020642:Acatalasia; D002374:Catalase / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics*
D002374:Catalase