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Case Report
Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17
On Jung, Jung-Hyun Lee, Chung-Sik Chun
Clin Exp Pediatr. 2007;50(3):311-315.   Published online March 15, 2007
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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