Journal of Assisted Reproduction and Genetics

, Volume 36, Issue 9, pp 1963–1969 | Cite as

Effects of a carrier’s sex and age on the segregation patterns of the trivalent of Robertsonian translocations

  • Lei Zhang
  • Wenjie Jiang
  • Yueting Zhu
  • Hong Chen
  • Junhao YanEmail author
  • Zi-Jiang Chen



To investigate the effects of a carrier’s sex and age on the segregation patterns of the trivalent of Robertsonian translocations.


This retrospective study was designed to analyze the segregation patterns of the trivalent and euploidy rates of blastocysts. Data were collected from 154 couples with Robertsonian translocation (77 with a female carrier and 77 with a male carrier). Embryos were diagnosed via array comparative genomic hybridization between January 2013 and July 2017. The segregation patterns of the trivalent of 604 blastocysts were analyzed according to the carrier’s sex and age.


The proportion of alternate segregation was significantly higher (82.9% vs. 55.2%) in the male carriers than in the female carriers of Robertsonian translocation, and the proportion of adjacent segregation was significantly lower (16.8% vs. 42.6%), with no difference in 3:0 segregation. The segregation patterns were similar in same-sex carriers when analyzed according to the type of translocation. The carrier’s age had no influence on the segregation patterns of the trivalent.


The proportions of the trivalent’s meiotic segregation pattern differ significantly according to the carrier’s sex in Robertsonian translocations and are independent of the carrier’s age. A significantly higher proportion of alternate segregation for normal or balanced chromosome contents was observed in the blastocysts of the male carriers than in those of the female carriers.


Chromosomal translocation Meiosis Preimplantation genetic testing Aneuploidy Genetic counseling 



This study received financial support from the National Key Research and Development Program of China (2016YFC1000202); the National Natural Science Foundation of China (81671522); and the Innovative Fund of Reproductive Hospital Affiliated to Shandong University (20171114, 20171111).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

10815_2019_1534_MOESM1_ESM.docx (321 kb)
ESM 1 (DOCX 320 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Lei Zhang
    • 1
    • 2
    • 3
  • Wenjie Jiang
    • 1
    • 2
    • 3
  • Yueting Zhu
    • 1
    • 2
    • 3
  • Hong Chen
    • 1
    • 2
    • 3
  • Junhao Yan
    • 1
    • 2
    • 3
    Email author
  • Zi-Jiang Chen
    • 1
    • 2
    • 3
    • 4
  1. 1.Center for Reproductive MedicineShandong UniversityJinanChina
  2. 2.National Research Center for Assisted Reproductive Technology and Reproductive GeneticsKey Laboratory of Reproductive Endocrinology (Shandong University), Ministry of EducationJinanChina
  3. 3.Shandong Provincial Key Laboratory of Reproductive MedicineJinanChina
  4. 4.Center for Reproductive Medicine, Ren Ji Hospital, School of MedicineShanghai Jiao Tong University, Shanghai Key Laboratory for Assisted Reproduction and Reproductive GeneticsShanghaiChina

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