Gillepie yndrome phenotype withat(x;11)(p22.32;p12) de novo tranlocation

Purpoe To report a patient with a phenotype uggetive of Gillepie yndrome and with a chromoomal abnormality. Method Clinical evaluation howed bilateral uperior coloboma, foveal hypoplaia, and inferior cerebellar hypoplaia. Karyotyping a well a invetigation of the PAX6 gene were performed. Reult The karyotype of the patient dicloed a de novo tranlocation t(X;11)(p22.32;p12). Fluorecent in itu hybridization and the earch for mutation excluded direct implication of the PAX6 gene. Concluion Thi i, to our knowledge, the firt report of a chromoomal abnormality detected in a patient with a Gillepie yndrome phenotype.