Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17.
10.3345/kjp.2007.50.3.311
- Author:
On JUNG
1
;
Jung Hyun LEE
;
Chung Sik CHUN
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea. ljhped@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Balanced translocation;
Musculoskeletal abnormalities
- MeSH:
Chromosomes, Human, Pair 3*;
Congenital Abnormalities*;
Korea;
Musculoskeletal Abnormalities;
Scapula
- From:Korean Journal of Pediatrics
2007;50(3):311-314
- CountryRepublic of Korea
- Language:English
-
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.
