title: Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.
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.
authors.affiliation: Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27103.
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
authors.forename: R G
authors.initials: RG
authors.lastname: Weaver
authors.forename: B K
authors.initials: BK
authors.lastname: Burton
mesh_terms: D015783:Aniridia / Q000235:genetics*; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic