Rarely Observed Jumping Translocation in Spontaneous Abortion.
- Author:
Yeon Woo LEE
1
;
Bom Yi LEE
;
Ju Yeon PARK
;
Eun Young CHOI
;
Ah Rum OH
;
Shin Young LEE
;
Hyun Mee RYU
;
Inn Soo KANG
;
Kwang Moon YANG
;
So Yeon PARK
Author Information
1. Laboratory of Medical Genetics, Cheil Medical Research Institute, Seoul, Korea. paranip@yahoo.co.kr
- Publication Type:Case Report
- Keywords:
Juming translocation;
Spontaneous abortion
- MeSH:
Abortion, Spontaneous;
Cell Line;
Chorionic Villi;
Chromosome Aberrations;
Chromosomes, Human, Pair 18;
Chromosomes, Human, Pair 22;
Female;
Fertilization;
Hematologic Neoplasms;
Humans;
Karyotype;
Pregnancy;
Tissue Donors
- From:Journal of Genetic Medicine
2010;7(1):82-86
- CountryRepublic of Korea
- Language:Korean
-
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.
