Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy

Am J Med Genet. 1982 Sep;13(1):39-49. doi: 10.1002/ajmg.1320130108.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Acatalasia*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cataract / genetics
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, 6-12 and X*
  • Cryptorchidism / genetics
  • Humans
  • Infant
  • Iris / abnormalities*
  • Male
  • Spasms, Infantile / genetics