Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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De novo interstitial direct duplication 8(p21.3p23.1)을 보인 Pierre Robin sequence 1예

De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence

  • 이순민 (연세대학교 의과대학 소아과학교실) ;
  • 박민수 (연세대학교 의과대학 소아과학교실) ;
  • 박국인 (연세대학교 의과대학 소아과학교실) ;
  • 남궁란 (연세대학교 의과대학 소아과학교실) ;
  • 이철 (연세대학교 의과대학 소아과학교실) ;
  • 이진성 (연세대학교 의과대학 임상유전학교실) ;
  • 이경아 (연세대학교 의과대학 진단검사의학교실) ;
  • 최종락 (연세대학교 의과대학 진단검사의학교실)
  • Lee, Soon Min (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Park, Min Soo (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Park, Kook In (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Namgung, Ran (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Lee, Chul (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Lee, Jin Seong (Department of Clinical Genetics, Yonsei University College of Medicine) ;
  • Lee, Kyung A (Department of Laboratory Medicine, Yonsei University College of Medicine) ;
  • Choi, Jong-Rak (Department of Laboratory Medicine, Yonsei University College of Medicine)
  • 투고 : 2008.09.16
  • 심사 : 2008.12.02
  • 발행 : 2009.05.15
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초록

Pierre Robin sequence (PRS)는 소악증, 구개열, 설하수 및 고궁구개 등의 기형을 합병한 선천성 질환으로, 수유 장애 및 호흡 곤란 소견을 보이는 증후군이다. PRS과 관련된 염색체 핵형 분석 결과가 보고되면서, 유전학적 관련성이 제시되어 왔으나, 아직까지 명확히 규명되지 않은 상태이다. 이에 저자들은 PRS 환아에서 처음으로 핵형 46, XX, dup(8)(p21.3p23.1)를 보인 환아를 경험하고, 전염색체탐색자 분석을 통해 중복된 물질이 8번 염색체임을 확인하였으며, PRS와 8번 삼염색체성과의 관련성을 보고하는 바이다.

The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

키워드

참고문헌

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