Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17

선천성 고위 견갑골을 동반한 3번과 17번 염색체의 균형전좌 1례

  • Jung, On (Department of Pediatrics, College of Medicine, The Catholic University) ;
  • Lee, Jung-Hyun (Department of Pediatrics, College of Medicine, The Catholic University) ;
  • Chun, Chung-Sik (Department of Pediatrics, College of Medicine, The Catholic University)
  • 정온 (가톨릭대학교 의과대학 소아과학교실) ;
  • 이정현 (가톨릭대학교 의과대학 소아과학교실) ;
  • Received : 2007.01.02
  • Accepted : 2007.02.15
  • Published : 2007.03.15
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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.

선천성 고위 견갑골과 두개안면기형, 심기형, 척추기형이 동반된 신생아에서 3번과 17번 염색체의 균형전좌를 확인하였으며 이는 국내 첫 번째 사례로 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

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