Korean Journal of Pediatrics 2007;50(3):311-315.
Published online March 15, 2007.
Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17
On Jung, Jung-Hyun Lee, Chung-Sik Chun
Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea
선천성 고위 견갑골을 동반한 3번과 17번염색체의 균형전좌 1례
정온, 이정현, 전정식
가톨릭대학교 의과대학 소아과학교실
Jung-Hyun Lee, Email: ljhped@catholic.ac.kr
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.
Key Words: Balanced translocation , Musculoskeletal abnormalities

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