Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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염색체 7번 장완의 부분적 역위 중복 1례

A Case of Partial Inverted Duplication of Chromosome 7q

  • 김현지 (동국대학교 의과대학 소아과학교실) ;
  • 이소영 (동국대학교 의과대학 소아과학교실) ;
  • 김미영 (동국대학교 의과대학 소아과학교실) ;
  • 백청순 (삼광임상검사센터) ;
  • 김원덕 (동국대학교 의과대학 소아과학교실) ;
  • 이동석 (동국대학교 의과대학 소아과학교실) ;
  • 김두권 (동국대학교 의과대학 소아과학교실) ;
  • 최성민 (동국대학교 의과대학 소아과학교실)
  • Kim, Hyun Ji (Department of Pediatrics, College of Medicine, Dongguk University) ;
  • Lee, So Young (Department of Pediatrics, College of Medicine, Dongguk University) ;
  • Kim, Mi Young (Department of Pediatrics, College of Medicine, Dongguk University) ;
  • Baek, Chung Sun (Sam Kwang Reference Laboratories) ;
  • Kim, Won Duck (Department of Pediatrics, College of Medicine, Dongguk University) ;
  • Lee, Dong Seok (Department of Pediatrics, College of Medicine, Dongguk University) ;
  • Kim, Doo Kwun (Department of Pediatrics, College of Medicine, Dongguk University) ;
  • Choi, Sung Min (Department of Pediatrics, College of Medicine, Dongguk University)
  • 투고 : 2002.12.26
  • 심사 : 2003.03.10
  • 발행 : 2003.05.15
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초록

저자들은 호흡곤란, 근력저하, 발달지체로 병원에 온 3 개윌된 남아의 염색체 핵형분석에서 46, XY, dup(7)(q36q33)으로 진단된 1례를 경험하였기에 보고하는 바이다.

Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.

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