Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.
We report another patient with del(11p) and aniridia, catalase deficiency, and cardiomyopathy. This association is confirmed from a review of previously reported cases. Since other dysplasias are known in this syndrome, the hypertrophic cardiomyopathy in del(11p) children may also represent an abnormality of tissue development.
D000015:Abnormalities, Multiple / Q000235:genetics*; D020642:Acatalasia; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003456:Cryptorchidism / Q000235:genetics; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D008297:Male; D013036:Spasms, Infantile / Q000235:genetics