Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A Case of 17q22 with Interstitial Deletion

염색체 17q22 염색체내 결손으로 진단된 1례

  • Kang, So-Yeon (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom-Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 강소연 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과학교실) ;
  • 이범희 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과학교실) ;
  • 김구환 (울산대학교 의과대학 서울아산병원 소아청소년병원 의학유전학센터) ;
  • 최진호 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과학교실) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과학교실)
  • Received : 2011.05.11
  • Accepted : 2011.06.10
  • Published : 2011.03.01
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Abstract

Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.

저자들은 출생 후 소두증 및 양안격리증과 넓은 콧마루, 얇은 입술 등의 특징정인 얼굴 모습, 손가락마디 융합증과 근위부에 위치한 엄지 손가락 등의 손의 기형이 있으면서 양측 청력 장애와 진행하는 관절의 구축을 보였던 남아의 염색체 검사에서 17번 염색체 장완의 q22-q24 부분의 염색체내 결손(interstitial deletion)을 확인한 1례를 경험하였으며 이는 국내 첫 보고이다.

Keywords

References

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