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

Journal of Medical Case Reports

Zulin Liu¹  Linyan Li²  Limei Yu²  Zhenhai Fan²  Xue Wan³ 

[1]Key Laboratory of Cell Engineering in Guizhou Province, Affiliated Hospital of Zunyi Medical University, 563003, Zunyi, Guizhou, China

[2]Key Laboratory of Cell Engineering in Guizhou Province, Affiliated Hospital of Zunyi Medical University, 563003, Zunyi, Guizhou, China

[3]Guizhou Provincial Sub-center for Prenatal Diagnosis, Affiliated Hospital of Zunyi Medical University, 563003, Zunyi, Guizhou, China

[4]Key Laboratory of Cell Engineering in Guizhou Province, Affiliated Hospital of Zunyi Medical University, 563003, Zunyi, Guizhou, China

[5]The Engineering Research Center of Zunyi Precision Medical Detection and Birth Defects Prevention and Control, Affiliated Hospital of Zunyi Medical University, 563003, Zunyi, Guizhou, China

关键词: Recurrent spontaneous abortion;    Chromosomal abnormalities;    Balanced translocations;    Cytogenetics analysis;    Karyotyping;    Genetic counseling;   

DOI  :  10.1186/s13256-021-02848-9

来源: Springer

【 摘 要 】

BackgroundRecurrent 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 couplewhen 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 presentationWe 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.ConclusionsIt 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.

【 授权许可】

CC BY