Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.

[aniridia]

We report on a boy presenting submucous cleft palate , hydronephrosis , ventriculoseptal defect , aniridia , and developmental delay . Additional material on 11 p 13 was cytogenetically visible and array analyses identified a duplicated segment on 15 q 25 -26 chromosome region ; further , array analyses revealed a small deletion (49 kb ) at 11 p 13 region involving the ELP 4 gene and a duplication at 8 p 23 .1 . Results were confirmed with both molecular and molecular cytogenetics techniques . Possibilities for etiological basis of clinical phenotype are discussed .