Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex.
A gene dosage effect for catalase (CAT) was investigated in three individuals : one with 11p13 deletion, aniridia, ambiguous genitalla, and gonadoblastoma ; one trisomic for 11p with the exception of 11p13; and one trisomic for 11p13. Results were compatible with the assignment of CAT to 11p13 and its linkage with the aniridia-gonadoblastoma or Wilms' tumor complex (WAGR).
D000293:Adolescent; D002374:Catalase / Q000097:blood / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004796:Clinical Enzyme Tests; D004407:Dysgerminoma / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics*
D002374:Catalase