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Effect of carriers' sex on meiotic segregation patterns and chromosome stability of reciprocal translocations

  • Author Footnotes
    # Joint first authors.
    Liuyan Lin
    Footnotes
    # Joint first authors.
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
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  • Author Footnotes
    # Joint first authors.
    Xueyao Chen
    Footnotes
    # Joint first authors.
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
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  • Jing Wang
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
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  • Rong Li
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
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  • Chenhui Ding
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
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  • Bing Cai
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
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  • Canquan Zhou
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
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  • Yanwen Xu
    Correspondence
    Corresponding author.
    Affiliations
    The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
    Search for articles by this author
  • Author Footnotes
    # Joint first authors.
Published:August 23, 2021DOI:https://doi.org/10.1016/j.rbmo.2021.08.017

      Abstract

      Research question

      Does the sex of reciprocal translocation carriers affect meiotic segregation patterns and stability of non-translocated chromosomes during meiosis?

      Design

      A total of 790 couples who underwent preimplantation genetic testing for reciprocal translocations by using the single nucleotide polymorphism (SNP) array platform between October 2016 and December 2019 were included. Among them, 294 couples had their euploid embryos distinguished between normal euploidies and balanced translocation carriers.

      Results

      Female translocation carriers had a significantly lower incidence of alternate segregation pattern than male carriers (43.26% versus 47.98%, P = 0.001), but a higher incidence of 3:1 segregation pattern (6.70% versus 4.29%, P < 0.001). Stratified analysis showed only female translocation carriers with acrocentric chromosome (Acr-ch) involved had a lower incidence of alternate segregation pattern and a higher incidence of 3:1 segregation pattern compared with male carriers (41.63% versus 47.73%, P = 0.012; 9.32% versus 5.03%, P = 0.001). In 2233 embryos of 294 couples with identification of normal and balanced embryos, no significant differences were found in the paternal-origin aneuploidy rate (5.61% versus 5.82%, P = 0.861) and the maternal-origin aneuploidy rate (12.82% versus 12.08%, P = 0.673) in both male and female carriers. After excluding segmental aneuploidies, no differences were found between male and female carriers in both paternal-origin aneuploidy rate (2.14% versus 1.75%, P = 0.594) and maternal-origin aneuploidy rate (11.75% versus 11.06%, P = 0.683).

      Conclusion

      The sex of the translocation carriers affected meiotic segregation patterns with no effect on the stability of non-translocated chromosomes during meiosis.

      KEYWORDS

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      Biography

      Liuyan Lin graduated in medicine from Sun Yat-sen University in 2019. She is studying for her MaD at the First Affiliated Hospital of Sun Yat-sen University, China. Her research interests include preimplantation genetic testing, bioinformatics, reproductive genetics and luteal phase defect.
      Key message
      Sex of reciprocal translocation carriers affected meiotic segregation patterns, but not chromosomal stability during meiosis. These findings provide clinicians with data to evaluate the reproductive risks of translocation carriers before preimplantation genetic testing.