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Journal of the Korean Child Neurology Society 2003;11(2):391-395.
Published online November 30, 2003.
A Case of Distal 10q Partial Trisomy Syndrome.
Sue Youn, Jue Hee Hong, Hae Young Lee, Jong Soo Kim, Byung Ho Cha
Department of Pediatrics, Yonsei University, Wonju College of Medicine, Wonju, Korea. chabh12@wonju.ac.kr
Abstract
Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.
Key Words: Distal 10q partial trisomy, Pure duplication


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