Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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A Case of a del(8p)/dup(8q) Recombinant Chromosome

8번 염색체 단완 결실과 장완 중복을 동반한 신생아 1례

  • Kim, Jeong-Young (Department of Pediatrics, Good Moon Hwa Hospital) ;
  • Im, Hyo-Bin (Department of Pediatrics, Good Gang An Hospital) ;
  • Son, Sang-Hee (Department of Pediatrics, Good Moon Hwa Hospital) ;
  • Jeong, So-Young (Department of Pediatrics, Laboratory Medicine, Good Moon Hwa Hospital) ;
  • Sung, Min-Jung (Department of Pediatrics, Good Moon Hwa Hospital) ;
  • Seo, Son-Sang (Department of Pediatrics, Good Moon Hwa Hospital)
  • 김정영 (좋은 문화병원 소아청소년과) ;
  • 임효빈 (좋은 강안병원 소아청소년과) ;
  • 손상희 (좋은 문화병원 소아청소년과) ;
  • 정소영 (좋은 문화병원 진단검사의학과) ;
  • 성민정 (좋은 문화병원 소아청소년과) ;
  • 서손상 (좋은 문화병원 소아청소년과)
  • Published : 2009.05.31

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Abstract

A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.n Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1 -->qter. Because Sp21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

저자들은 자궁 내 발육 지연으로 입원한 신새아가 요도하열, 잠복고환, 폐동맥판 협착이 동반되어 시행한 염색체 검사에서 불균형 전도로부터 재조합된 염색체이상의 결과로 8번 염색체 단완 결실과 장완 중복을 보인 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

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