Trisomy 9 syndrome
- 1 October 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 12 (4) , 221-226
- https://doi.org/10.1111/j.1399-0004.1977.tb00930.x
Abstract
An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the 3 previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low-set malformed ears, high-arched palate, congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.This publication has 8 references indexed in Scilit:
- Partial trisomy 9 with resemblance to Coffin-Siris syndrome.Journal of Medical Genetics, 1976
- Congenital leukemia associated with mosaic trisomy 9The Journal of Pediatrics, 1976
- Trisomy 9 mosaicism in a newborn infant with multiple malformationsThe Journal of Pediatrics, 1974
- Trisomy-9 in the Bone Marrow of a Patient with Acute Myelomonoblastic LeukaemiaBritish Journal of Haematology, 1974
- ACQUIRED TRISOMY 9The Lancet, 1973
- Trisomy 9 Mosaicism with Multiple Congenital AnomaliesJournal of Medical Genetics, 1973
- A Case of Trisomy 9Journal of Medical Genetics, 1973
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971