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)
| Autor: | Margot M. Bartelings, Johan M. Kros, Cornelia M. Mooy, E J Sulkers, Lutgarde C.P. Govaerts, Jan O. Van Hemel, Ronald R. de Krijger |
|---|---|
| Přispěvatelé: | Pathology, Clinical Genetics, Pediatrics |
| Rok vydání: | 1999 |
| Předmět: |
Heart Defects
Congenital Pathology medicine.medical_specialty Monosomy Heart malformation Hearing loss Chromosomes Human Pair 21 Genetic counseling Ocular Pathology Autopsy Trisomy Biology Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Fatal Outcome 030225 pediatrics Optic Nerve Diseases otorhinolaryngologic diseases medicine Humans Abnormalities Multiple Eye Abnormalities Coloboma Infant Newborn General Medicine Anatomy Syndrome medicine.disease Atresia Karyotyping Pediatrics Perinatology and Child Health Female medicine.symptom Chromosomes Human Pair 19 |
| Zdroj: | Pediatric and Developmental Pathology, 2, 577-581. SAGE Publishing |
| ISSN: | 1093-5266 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink