Rarely Observed Jumping Translocation in Spontaneous Abortion
Journal of Genetic Medicine
; : 82-86, 2010.
Article
in Korean
| WPRIM (Western Pacific)
| ID: wpr-105428
Responsible library:
WPRO
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.
Full text:
Available
Health context:
SDG3 - Health and Well-Being
Health problem:
Target 3.4: Reduce premature mortality due to noncommunicable diseases
Database:
WPRIM (Western Pacific)
Main subject:
Tissue Donors
/
Chromosomes, Human, Pair 18
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Chromosomes, Human, Pair 22
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Cell Line
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Abortion, Spontaneous
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Chorionic Villi
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Chromosome Aberrations
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Hematologic Neoplasms
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Fertilization
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Karyotype
Limits:
Female
/
Humans
/
Pregnancy
Language:
Korean
Journal:
Journal of Genetic Medicine
Year:
2010
Document type:
Article