Cytogenetics in ophthalmology.
The development of human clinical cytogenetics has been comparatively recent. The authors made an analytical study of chromosomes in patients presenting ocular coloboma with mental deficiency, strabismus with malformation, and other disorders in order to define the genetic aspect of these diseases. They obtained in these patients chromosomal alterations, including translocation, aneuploidies, suggesting the importance of cytogenetic analysis in eye affections even if these are considered of monogenic character.
D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D003103:Coloboma / Q000235:genetics*; D003231:Conjunctivitis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D013285:Strabismus / Q000235:genetics; D014178:Translocation, Genetic