A Case of Partial Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2).
- Author:
Ik Soon SHIN
1
;
Woo Jin JUNG
;
Jang Yong JIN
;
Woo Ryoung LEE
Author Information
1. Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea. neolee@schmc.ac.kr
- Publication Type:Case Report
- Keywords:
Chromosome 9;
Trisomy;
Congenital anomalies;
Balanced translocation
- MeSH:
Brain;
Chromosomes, Human, Pair 9;
Craniofacial Abnormalities;
Dislocations;
Ear;
Heart Diseases;
Hip;
Hydronephrosis;
Hypertelorism;
Intellectual Disability;
Knee;
Knee Joint;
Microcephaly;
Nose;
Trisomy
- From:Korean Journal of Perinatology
2010;21(3):302-305
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Trisomy 9 syndrome was first reported by Retheore in 1970 and has been rarely reported. This syndrome consists of partial and complete trisomy 9. It is characterized by growth and mental retardation, craniofacial abnormalities including microcephaly, hypertelorism, prominent nose, deep-set ears and down-slanting palpebral fissures. Congenital heart diseases and congenital dislocations of knee are also common in trisomy 9 syndrome. Here, we report a very rare case of partial trisomy 9 due to maternal balanced translocation t(9;21). He showed craniofacial abnormalities, brain malformation, cardiac defect, hydronephrosis and congenital dislocations of hip and knee joints.
