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)

• Published in: Pediatric and developmental pathology 1999-11, Vol.2 (6), p.577-581
• Main Authors: De Krijger, R R, Mooy, C M, Van Hemel, J O, Sulkers, E J, Kros, J M, Bartelings, M M, Govaerts, L C
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Chromosomes, Human, Pair 19 - genetics; Chromosomes, Human, Pair 21 - genetics; Coloboma - pathology; Eye Abnormalities - pathology; Fatal Outcome; Female; Heart Defects, Congenital - pathology; Humans; Infant, Newborn; Karyotyping; Monosomy - genetics; Monosomy - pathology; Optic Nerve Diseases - pathology; Syndrome; Trisomy - genetics; Trisomy - pathology
• ISSN: 1093-5266; 1615-5742
• DOI: 10.1007/s100249900165

We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.