Ocular findings in partial trisomy 3q. A case report and review of the literature

Abstract

The authors report the ocular findings in a patient with partial trisomy 3 [46, XY-15, der(15), t(3;15) (q26;128) mat] and review the literature on this chromosomal anomaly. The patient's main ocular finding was infantile glaucoma. The patient's mother was phenotypically normal and carried a balanced chromosome translocation. Awareness of the ocular abnormalities associated with partial trisomy syndromes is essential since more children with these syndromes survive today than in the past.