Congenital glaucoma resulting from a chromosomal translocation.
A boy with congenital glaucoma, mental retardation and dysmorphic features is described. Chromosome analyses revealed two different, apparently balanced translocations; between the long arms of chromosomes 2 and 10 as well as between the long arms of chromosomes 8 and 12; 46,XY t(2;10)(q33;q26)pat, t(8;12) (q24;q21). The healthy father of the patient had the same balanced translocation between the long arms of chromosomes 2 and 10; 46,XY, t(2;10)(q33;q26).
Gustavson
K H
KH
Department of Clinical Genetics, University of Uppsala, Sweden.
Berggren
L
L
Svedberg
B
B
Törnquist
P
P
D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10; D002881:Chromosomes, Human, Pair 12; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic