Korean J Pediatr.
2007 Mar;50(3):311-314. 10.3345/kjp.2007.50.3.311.
Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17
- Affiliations
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- 1Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea. ljhped@catholic.ac.kr
- KMID: 2279254
- DOI: http://doi.org/10.3345/kjp.2007.50.3.311
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.
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