A Case of Paracentric Inversion of Chromosome 12(q13q22). |
Shin Young Kim, Cho Ae Lee, Man Yong Han, Shu Jung Kim, Kyu Hyung Lee, Kyu Young Chae |
Department of Pediatrics, College of Medicine, Pochon CHA University, Sungnam, Korea. barnabas@cha.ac.kr |
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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. |
Key Words:
Paracentric inversion, Chromosome 12 |
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