Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)].
We studied a family in which congenital cataracts were found in a father and son who had a reciprocal translocation between the short arms of chromosomes 3 and 4 [t(3;4)(p26.2;p15)]. The father's parents and brother had normal chromosomes and no evidence of cataracts. While results of these studies do not prove a causal relationship, they do strongly suggest that the areas near the break points involved in the translocation (3p26.2 and 4p15) would be good sites for further investigations into the genetic basis of this type of cataract.
Reese
P D
PD
Department of Ophthalmology, Tufts-New England Medical Center, Boston, MA 02111.
Tuck-Muller
C M
CM
Maumenee
I H
IH
D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic