Purpose: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality.
Methods: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed.
Results: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene.
Conclusion: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.