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Rarely Observed Jumping Translocation in Spontaneous Abortion  

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)
Publication Information
Journal of Genetic Medicine / v.7, no.1, 2010 , pp. 82-86 More about this Journal
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.
Keywords
Juming translocation; Spontaneous abortion;
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