Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Trisomy 22 with Pulmonary Hypoplasia in a Liveborn Infant

폐형성 부전이 동반된 Trisomy 22 1례

  • Choi, Myoung-Bum (Department of Pediatrics, Gyeongsang National University College of Medicine) ;
  • Kang, Ki Su (Department of Pediatrics, Gyeongsang National University College of Medicine) ;
  • Park, Chan-Hoo (Department of Pediatrics, Gyeongsang National University College of Medicine) ;
  • Woo, Hyang-Ok (Department of Pediatrics, Gyeongsang National University College of Medicine) ;
  • Lee, Jeong-Hee (Department of Pathology, Gyeongsang National University College of Medicine) ;
  • Lee, Jae-Ik (Department of Obstetrics and Gynecology, Gyeongsang National University College of Medicine) ;
  • Paik, Won Young (Department of Obstetrics and Gynecology, Gyeongsang National University College of Medicine) ;
  • Youn, Hee-Shang (Department of Pediatrics, Gyeongsang National University College of Medicine)
  • 최명범 (경상대학교 의과대학 소아과학교실) ;
  • 강기수 (경상대학교 의과대학 소아과학교실) ;
  • 박찬후 (경상대학교 의과대학 소아과학교실) ;
  • 우향옥 (경상대학교 의과대학 소아과학교실) ;
  • 이정희 (경상대학교 의과대학 병리학교실) ;
  • 이재익 (경상대학교 의과대학 산부인과학교실) ;
  • 백원영 (경상대학교 의과대학 산부인과학교실) ;
  • 윤희상 (경상대학교 의과대학 소아과학교실)
  • Received : 2002.01.07
  • Accepted : 2002.03.05
  • Published : 2002.06.15
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Abstract

We report a case of trisomy 22 in a liveborn male infant which was confirmed by fluorescence in situ hybridization(FISH), macrocultures and GTG-banding, and RHA-banding procedures of peripheral white blood cells. The infant showed lung hypoplasia, which is a unique presentation, with other clinical manifestations of previously reported cases of trisomy 22, such as intrauterine growth retardation, cleft palate, micrognathia, large atrial septal defect, limb anomalies, imperforate anus, and hypospadias. Our report gives weight to the previously reported observation that pulmonary hypoplasia may be associated in trisomy 22.

저자들은 폐형성부전과 다발성 선천성 기형을 가지고 있는 생존 출생아에서 말초혈액의 염색체 검사 및 FISH로 확인된 trisomy 22 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords