Trisomy 9 Mosaicism 1례

A Case of Trisomy 9 Mosaicism

  • 김영옥 (전남대학교 의과대학 소아과학교실) ;
  • 박천학 (서남대학교 의과대학 소아과학교실) ;
  • 최익선 (전남대학교 의과대학 소아과학교실) ;
  • 김현정 (전남대학교 의과대학 소아과학교실) ;
  • 조창이 (전남대학교 의과대학 소아과학교실) ;
  • 최영륜 (전남대학교 의과대학 소아과학교실)
  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School) ;
  • Park, Chun Hak (Department of Pediatrics, Seonam University Medical School) ;
  • Choi, Ic Sun (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Hyun Jung (Department of Pediatrics, Chonnam National University Medical School) ;
  • Cho, Chang Yee (Department of Pediatrics, Chonnam National University Medical School) ;
  • Choi, Young Youn (Department of Pediatrics, Chonnam National University Medical School)
  • 투고 : 2003.01.24
  • 심사 : 2003.04.04
  • 발행 : 2003.06.15

초록

저자들은 저출생 체중과 호흡 곤란을 주소로 출생 직후 이송 된 여아에서, 진찰상 안면과 골격계 기형 소견 보여 말초 혈액에서 시행한 염색체 핵형 검사에서 trisomy 9, low level mosaic type으로 진단되었던 1례를 경험하였기에 보고하는 바이다.

Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.

키워드