A Case of Paracentric Inversion of Chromosome 12(q13q22).
- Author:
Shin Young KIM
1
;
Cho Ae LEE
;
Man Yong HAN
;
Shu Jung KIM
;
Kyu Hyung LEE
;
Kyu Young CHAE
Author Information
1. Department of Pediatrics, College of Medicine, Pochon CHA University, Sungnam, Korea. barnabas@cha.ac.kr
- Publication Type:Case Report
- Keywords:
Paracentric inversion;
Chromosome 12
- MeSH:
Child, Preschool;
Choanal Atresia;
Chromosome Aberrations;
Chromosomes, Human, Pair 12;
Ductus Arteriosus, Patent;
Failure to Thrive;
Female;
Humans;
Karyotype;
Korea;
Laryngomalacia;
Mothers;
Wills
- From:
Journal of the Korean Child Neurology Society
2002;10(1):131-136
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Paracentric inversion of chromosome 12 is a rare chromosomal aberration, which has familial inheritance in a few cases. We encountered a 2-year-old girl who presented developmental delay, failure to thrive, patent ductus arteriosus, choanal atresia, laryngomalacia, and mild facial dysmorphism. Chromosome studies from peripheral blood showed a 46, XX, inv(12)(q13q22) karyotype. The inversion was also found in her mother. The authors report the first case of paracentric inversion of chromosome 12 in Korea with a review of literature.
