Korean J Perinatol.
2008 Sep;19(3):318-321.
A case of trisomy 6p due to maternal balanced translocation
- Affiliations
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- 1Department of Pediatrics, Presbyterian Medical Center, Jeonju, Korea. okleepmc@jesushospital.com
- 2Department of Laboratory Medicine, Presbyterian Medical Center, Jeonju, Korea.
Abstract
- Trisomy 6p is an extremely rare disorder, in fact approximately 42 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(6;14), thus the offspring inherit such a gene. In this report, the mother's chromosomal arrangement was 46, XX, t(6;14)(p21.1;q32) and the father had a normal chromosomal arrangement. We experienced a case of trisomy 6p in a male neonate who had low birth weight, craniofacial abnormalities, sacral dimple and syndactyly. The karyotype of his chromosome was 46, XY, der(14)t(6;14) (p21.1;q32). We report the case with the review of the associated literatures.
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