CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3)

We report a novel case of partial trisomy 19q and concomitant partial monos omy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), id entified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with asso ciated bilateral colobomatous optic nerve cysts, hearing loss, and a cardia c anomaly. At autopsy, the dysmorphic features and cleft palate were confir med. The ocular histopathology is described in detail and the cardiac anoma ly was further specified. The combination of phenotype features is diagnost ic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded g rowth and development, and/or CNS anomalies, genital hypoplasia, ear anomal ies and/or deafness) association. This case also has some phenotypic featur es in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genet ic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.