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KMID : 1130320070500030311
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Korean Journal of Pediatrics
2007 Volume.50 No. 3 p.311 ~ p.314
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Sprengel’s deformity associated with a de novo balanced traslocation involving chromosome 3 and 17
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Jeong On
Lee Jung-Hyun
Chun Chung-Sik
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Abstract
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This is the first case of a de novo balanced translocation 46, XY, t(3;17)(p12.2;q25) associated with multiple musculoskeletal abnormalities, including Sprengel’s deformity (congenital undescended scapula to be reported). This translocation has not been described previously with this congenital anomaly in Korea.
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KEYWORD
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balanced traslocation, Musculoskeletal abnormalities
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Listed journal information
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