Ann Lab Med.
2012 Jan;32(1):91-94. 10.3343/alm.2012.32.1.91.
A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
- Affiliations
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- 1Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea. csm410@naver.com
- 2Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.
- 3Department of Laboratory Medicine, Center for Clinical Oncology, Research Institute and Hospital, National Cancer Center, Goyang, Korea.
- KMID: 1781445
- DOI: http://doi.org/10.3343/alm.2012.32.1.91
Abstract
- Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).
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