Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings

오누이에서 발생한 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군의 임상 증상

  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School) ;
  • Cho, Young Kuk (Department of Pediatrics, Chonnam National University Medical School) ;
  • Song, En Song (Department of Pediatrics, Chonnam National University Medical School) ;
  • Han, Dong Kyun (Department of Pediatrics, Chonnam National University Medical School) ;
  • Choi, Ic Sun (Department of Pediatrics, Chonnam National University Medical School) ;
  • Baek, Hee Jo (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Chan Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Choi, Young Youn (Department of Pediatrics, Chonnam National University Medical School)
  • 김영옥 (전남대학교 의과대학 소아과학교실) ;
  • 조영국 (전남대학교 의과대학 소아과학교실) ;
  • 송은송 (전남대학교 의과대학 소아과학교실) ;
  • 한동균 (전남대학교 의과대학 소아과학교실) ;
  • 최익선 (전남대학교 의과대학 소아과학교실) ;
  • 백희조 (전남대학교 의과대학 소아과학교실) ;
  • 김찬종 (전남대학교 의과대학 소아과학교실) ;
  • 우영종 (전남대학교 의과대학 소아과학교실) ;
  • 최영륜 (전남대학교 의과대학 소아과학교실)
  • Received : 2008.08.05
  • Accepted : 2008.10.09
  • Published : 2008.11.15
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Abstract

We report on 2 siblings with a partial trisomy of 7q ($7q22{\rightarrow}qter$) and concomitant partial monosomy of 8p ($8p23.3{\rightarrow}pter$), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

7번과 8번 염색체의 전위에 의한 염색체 이상 증후군은 드물게 보고되고 있어 그 임상적 특징에 대한 정보가 적다. 저자들은 비슷한 특이한 외형과 다발성 기형을 보인 오누이에서 동일하게 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군을 관찰하여 그 임상적 특징과 추적 관찰한 경과를 보고하는 바이다.

Keywords

References

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