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Journal of the Korean Child Neurology Society 2002;10(1):131-136.
Published online May 30, 2002.
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
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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