Neonatal Medicine

  • 제16권1호
  • /
  • Pages.71-75
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  • 2009
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  • 2287-9412(pISSN)
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  • 2287-9803(eISSN)
대한신생아학회 (The Korean Society of Neonatology)
권호 표지

아버지로부터 유래된 9번 염색체 장완의 부분 세염색체 1례

Case of Partial Trisomy 9q Derived from Paternal Chromosome

  • 정지은 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 송은정 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 박혜진 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 이계향 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 이경훈 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 최은진 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 김진경 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 정혜리 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 서억수 (동국대학교 의과대학 안과학교실) ;
  • 김우택 (대구가톨릭대학교 의과대학 소아과학교실)
  • Jung, Ji-Eun (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Song, Eun-Jeong (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Park, Hye-Jin (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Lee, Kye-Hyang (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Lee, Kyung-Hoon (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Choi, Eun-Jin (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Kim, Jin-Kyung (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Chung, Hai-Lee (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Seo, Eok-Su (Department of Ophthalmology, Dongguk University College of Medicine) ;
  • Kim, Woo-Taek (Department of Pediatrics, School of Medicine, Catholic University of Daegu)
  • 발행 : 2009.05.31

⟨ 이전 논문 다음 논문 ⟩

초록

9번 염색체 장완의 중복은 거의 드문 형태의 염색체 이상이며, 특징적인 얼굴형태와 손가락 형태, 정신지체 등이 나타나는 것으로 알려져 있다. 얼굴 형태는 정상이었으나 선천성 심장기형과 수신증, 음낭 탈장이 동반된 미숙아에게서 46,X,Y,dup(9)(q21.2q22.1)를 확인하였고, 표현형이 정상인 환아의 아버지에게서 유래된 것으로 생각되어진 예를 경험하였기에 보고하는 바이다.

There are few cases of partial trisomy of 9q, known as partial 9q trisomy syndrome with low birth weight, microcephaly, hypotelorism, beaked nose, small lip, long finger, hypertrophic pyloric stenosis, ventricular septal defect, and mental retardation. We report partial trisomy of 9q derived from a paternal chromosome, which has different features of other syndromes, including prematurity, atrial and ventricular septal defect, patent ductus arteriosus, persistent left superior vena cava, congenital hydronephrosis, and scrotal hernia.

키워드

참고문헌

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