A patient with aniridia was diagnosed as having chromosome abnormalities involving 11p13. High resolution G-banding revealed normal chromosomes in the parents and 46, XX, del (11) (p13-p15) in a patient. Low catalase activity and normal lactic dehydrogenase isoenzymes' pattern were observed, indicating that the deleted segment was 11p13-11p15.
Western blotting analysis with the use of the antiserum raised against purified human catalase also indicated that the patient has a low catalase protein content in the erythrocytes. This technique may provide simple and useful means for the diagnosis of a patient with aniridia.