J Korean Child Neurol Soc.
2002 May;10(1):131-136.
A Case of Paracentric Inversion of Chromosome 12(q13q22)
- Affiliations
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- 1Department 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.
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