De novo terminal 4q deletion syndrome with new ocular findings in Turkish twins: case report: The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. Herein we report cases of twins (karyotype 46, XY) carrying terminal deletion of the chromosome 4 (q3 lqter) segment resulting in craniofacial dysmorphism, skeletal anomalies, ocular findings and cardiac defect.