J Genet Med.  2010 Jun;7(1):82-86.

Rarely Observed Jumping Translocation in Spontaneous Abortion

• Lee YW
• Lee BY
• Park JY
• Choi EY
• Oh AR
• Lee SY
• Ryu HM
• Kang IS
• Yang KM
• Park SY

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.

Keyword

Juming translocation; Spontaneous abortion

MeSH Terms

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