Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.

A father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t (5; 11) (q13. 1; p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family.
This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13. 
