A complex chromosome translocation resulting in deletion 11p and associated with uveal colobomata.
A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome II is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.
D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D003103:Coloboma / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D014602:Uvea / Q000002:abnormalities*