A Case of Trisomy 9 Syndrome.
- Author:
Yu Sik JEON
1
;
Heung Tag KIM
;
Soon Hee JEONG
;
Kyuchul CHOEH
Author Information
1. Department of Pediatrics, Eulji Medical College, Taejon, Korea.
- Publication Type:Case Report
- Keywords:
Trisomy 9;
Multiple congenital anomalies
- MeSH:
Cleft Lip;
Disorders of Sex Development;
Fingers;
Heart Septal Defects, Ventricular;
Humans;
Infant, Newborn;
Korea;
Nose;
Trisomy*
- From:Journal of the Korean Pediatric Society
1998;41(2):255-258
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Since Feingold and his collegues first described the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a long life. Before this report, this syndrome has not been reported in Korea. A neonate was diagnosed trisomy 9 syndrome by clinical feature and chromosomal study. He had multiple anomalies such as broad-based nose, partially cleft lip, ambiguous genitalia, hyperconvex nails, overriding of fingers, and ventricular septal defect. The patient died at home on the 113th day of life.
