Rarely Observed Jumping Translocation in Spontaneous Abortion

자연 유산에서 드물게 관찰된 Jumping translocation 2례

  • Lee, Yeon-Woo (Laboratory of Medical Genetics, Cheil Medical Research Institute) ;
  • Lee, Bom-Yi (Laboratory of Medical Genetics, Cheil Medical Research Institute) ;
  • Park, Ju-Yeon (Laboratory of Medical Genetics, Cheil Medical Research Institute) ;
  • Choi, Eun-Young (Laboratory of Medical Genetics, Cheil Medical Research Institute) ;
  • Oh, Ah-Rum (Laboratory of Medical Genetics, Cheil Medical Research Institute) ;
  • Lee, Shin-Young (Laboratory of Medical Genetics, Cheil Medical Research Institute) ;
  • Ryu, Hyun-Mee (Laboratory of Medical Genetics, Cheil Medical Research Institute) ;
  • Kang, Inn-Soo (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Yang, Kwang-Moon (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Park, So-Yeon (Laboratory of Medical Genetics, Cheil Medical Research Institute)
  • 이연우 (제일병원 의학연구소 유전학연구실) ;
  • 이봄이 (제일병원 의학연구소 유전학연구실) ;
  • 박주연 (제일병원 의학연구소 유전학연구실) ;
  • 최은영 (제일병원 의학연구소 유전학연구실) ;
  • 오아름 (제일병원 의학연구소 유전학연구실) ;
  • 이신영 (제일병원 의학연구소 유전학연구실) ;
  • 류현미 (제일병원 의학연구소 유전학연구실) ;
  • 강인수 (관동대학교 의과대학 제일병원 산부인과) ;
  • 양광문 (관동대학교 의과대학 제일병원 산부인과) ;
  • 박소연 (제일병원 의학연구소 유전학연구실)
  • Received : 2010.05.27
  • Accepted : 2010.06.25
  • Published : 2010.03.01

Abstract

Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]. The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13)[13]/46,XY,add(22)(q13)[5]/46 XY[23]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.

Jumping translocation (JT)은 여러 세포주에서 하나의 공여 염색체가 둘 이상의 수여 염색체와 염색체 재배열을 보이는 염색체의 구조적 이상으로 종양 세포인 림프성 혈액암에서 빈번하게 관찰되는 획득성(acquired) JT에 비해 체질성(constitutional) JT는 매우 드물게 보고되고 있다. 본 증례에서는 자연 유산된 수태산물에서 관찰된 체질성 JT 2례를 보고하고자 한다. 증례 1은 임신 7주 유산아 조직의 세포유전학적 검사에서 핵형분석 결과는 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]로 관찰되었다. 공여 염색체는 18번이고 수여 염색체는 1, 13, 15, 18, 21번이었다. 증례2는 임신 6주째 자연 유산된 유산아 조직으로부터 세포 유전학적 검사를 실시한 결과, 핵형은 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13)[13]/46,XY,add(22)(q13)[5]/46,XY[23]고 관찰되었다. 공여 염색체는 22번이고 수여 염색체는1, 9번이었다. 2례모두de novo였고 acrocentric 염색체를 수반하였으며 절단점은 대부분 중심절과 중심절 주위, 말단체에 존재하였다. 본 증례는 매우 드물게 관찰되는 체질성 JT로서 임신 초기 세포 분열 단계에서 발생했고 다양한 세포주에서 나타난 비정상 핵형으로 인해 정상적인 배발달이 이루어지지 못하여 자연 유산된 것으로 생각된다.

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