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KMID : 0391520030110020391
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Journal of the Korean Child Neurology Society
2003 Volume.11 No. 2 p.391 ~ p.395
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A Case of Distal 10q Partial Trisomy Syndrome.
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Yun Soo
Hong Joo-Hee
Lee Hae-Yong
Kim Jong-Soo
Cha Byoung-Ho
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Abstract
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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.
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KEYWORD
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Distal 10q partial trisomy, Pure duplication
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