Congenital glaucoma and other ocular abnormalities associated with pericentric inversion of chromosome 11.
Pericentric inversion of chromosome 11 occurred in consecutive generations of family members with congenital glaucoma. Affected persons were characterized by unilateral or bilateral congenital glaucoma, bilateral corneal disease, and a lack of appreciable dysmorphism. Previous reports of inversions of chromosome 11 are rare, and no ocular abnormalities have been noted. Chromosomal abnormalities may be the cause of some forms of congenital glaucoma and should be included in the genetic heterogeneity of this disease.
D000328:Adult; D001766:Blindness / Q000151:congenital; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D003316:Corneal Diseases / Q000151:congenital; D005260:Female; D005808:Genes, Recessive; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics; D006801:Humans; D010375:Pedigree