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 |
Correspondence:
Jung-Hyun Lee, Email: ljhped@catholic.ac.kr |
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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. |
Key Words:
Balanced translocation , Musculoskeletal abnormalities |
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