All issues > Volume 50(3); 2007

Case Report

Korean J Pediatr. 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 O Jung¹, Jung-Hyun JH Lee¹, Chung-Sik CS Chun¹

¹Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea

Correspondence Jung-Hyun JH 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.

Keywords :Balanced translocation , Musculoskeletal abnormalities