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Journal of Medical Case Reports

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01-12-2021 | Chromosomal Abnormality | Case report

Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports

Authors: Xue Wan, Linyan Li, Zulin Liu, Zhenhai Fan, Limei Yu

Published in: Journal of Medical Case Reports | Issue 1/2021

Abstract

Background

Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype.

Case presentation

We report two rare Han cases of RSA associated with balanced translocation of chromosomes. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). The abnormal karyotype was not found in other chromosomes.

Conclusions

It is very important that couples with more than two miscarriages be provided with chromosomal analysis. Referring couples for karyotyping will rule out or confirm possible hereditary etiology and the source of chromosomal abnormalities in recurrent miscarriages.

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Title: Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports
Authors: Xue Wan
Linyan Li
Zulin Liu
Zhenhai Fan
Limei Yu
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Chromosomal Abnormality
Miscarriage
Published in: Journal of Medical Case Reports / Issue 1/2021
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-021-02848-9

At a glance: The STEP trials

Springer Medicine

Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports

Abstract

Background

Case presentation

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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