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Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17  

Jung, On (Department of Pediatrics, College of Medicine, The Catholic University)
Lee, Jung-Hyun (Department of Pediatrics, College of Medicine, The Catholic University)
Chun, Chung-Sik (Department of Pediatrics, College of Medicine, The Catholic University)
Publication Information
Clinical and Experimental Pediatrics / v.50, no.3, 2007 , pp. 311-315 More about this Journal
Abstract
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.
Keywords
Balanced translocation; Musculoskeletal abnormalities;
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