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

Jung, On; Lee, Jung-Hyun; Chun, Chung-Sik

Case Report

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

Correspondence:
Jung-Hyun Lee, Email: ljhped@catholic.ac.kr

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