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Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia
M J Pettenati1, R G Weaver, B K Burton
1Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27103.
American Journal of Medical Genetics
|October 1, 1989
Abstract:
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.