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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
Genetics

Abstract

Purpose

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

Methods

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.

Results

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.

Conclusions

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.

Keywords

Chromosomal translocation Meiosis Preimplantation genetic testing Aneuploidy Genetic counseling 

Notes

Funding

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)

References

  1. 1.
    Morin SJ, Eccles J, Iturriaga A, Zimmerman RS. Translocations, inversions and other chromosome rearrangements. Fertil Steril. 2017;107:19–26.CrossRefGoogle Scholar
  2. 2.
    Robertson WRB. Chromosome studies. I. Taxonomic relationships shown in the chromosomes of tettigidae and acrididae: V-shaped chromosomes and their significance in acrididae, locustidae, and gryllidae: chromosomes and variation. J Morphol. 1916;27:179–331.CrossRefGoogle Scholar
  3. 3.
    Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N. A cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi. 1991;36:117–29.CrossRefGoogle Scholar
  4. 4.
    Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87:81–3.CrossRefGoogle Scholar
  5. 5.
    Yoshida A, Miura K, Shirai M. Cytogenetic survey of 1,007 infertile males. Urol Int. 1997;58:166–76.CrossRefGoogle Scholar
  6. 6.
    Stern C, Pertile M, Norris H, Hale L, Baker HW. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14:2097–101.CrossRefGoogle Scholar
  7. 7.
    Guttenbach M, Engel W, Schmid M. Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet. 1997;100:1–21.CrossRefGoogle Scholar
  8. 8.
    Balkan W, Martin RH. Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation. Am J Med Genet. 1983;16:169–72.CrossRefGoogle Scholar
  9. 9.
    Pellestor F, Sele B, Jalbert H. Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet. 1987;76:116–20.CrossRefGoogle Scholar
  10. 10.
    Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D, et al. Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes. Hum Genet. 1995;96:655–60.CrossRefGoogle Scholar
  11. 11.
    Frydman N, Romana S, Le Lorc’h M, Vekemans M, Frydman R, Tachdjian G. Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod. 2001;16:2274–7.CrossRefGoogle Scholar
  12. 12.
    Roux C, Tripogney C, Morel F, Joanne C, Fellmann F, Clavequin MC, et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res. 2005;111:291–6.CrossRefGoogle Scholar
  13. 13.
    Munne S, Scott R, Sable D, Cohen J. First pregnancies after preconception diagnosis of translocations of maternal origin. Fertil Steril. 1998;69:675–81.CrossRefGoogle Scholar
  14. 14.
    Conn CM, Harper JC, Winston RM, Delhanty JD. Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet. 1998;102:117–23.CrossRefGoogle Scholar
  15. 15.
    Munne S, Fung J, Cassel MJ, Marquez C, Weier HU. Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis. Hum Genet. 1998;102:663–74.CrossRefGoogle Scholar
  16. 16.
    Munne S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 2000;73:1209–18.CrossRefGoogle Scholar
  17. 17.
    Kuliev A, Verlinsky Y. Place of preimplantation diagnosis in genetic practice. Am J Med Genet A. 2005;134A:105–10.CrossRefGoogle Scholar
  18. 18.
    Bint SM, Ogilvie CM, Flinter FA, Khalaf Y, Scriven PN. Meiotic segregation of Robertsonian translocations ascertained in cleavage-stage embryos--implications for preimplantation genetic diagnosis. Hum Reprod. 2011;26:1575–84.CrossRefGoogle Scholar
  19. 19.
    Ko DS, Cho JW, Lee HS, Kim JY, Kang IS, Yang KM, et al. Preimplantation genetic diagnosis outcomes and meiotic segregation analysis of robertsonian translocation carriers. Fertil Steril. 2013;99:1369–76.CrossRefGoogle Scholar
  20. 20.
    Jin H, Ping L, Jie Q, Ying L, Yongjian C. Translocation chromosome karyotypes of the Robertsonian translocation carriers’ embryos. Fertil Steril. 2010;93:1061–5.CrossRefGoogle Scholar
  21. 21.
    Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011;26:1925–35.CrossRefGoogle Scholar
  22. 22.
    Treff NR, Tao X, Schillings WJ, Bergh PA, Scott RT Jr, Levy B. Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril. 2011;96:e58–65.CrossRefGoogle Scholar
  23. 23.
    Deleye L, Dheedene A, De Coninck D, Sante T, Christodoulou C, Heindryckx B, et al. Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts. Fertil Steril. 2015;104:1276–85 e1.CrossRefGoogle Scholar
  24. 24.
    Zhang L, Wei D, Zhu Y, Jiang W, Xia M, Li J, et al. Interaction of acrocentric chromosome involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations. Hum Reprod. 2019;34:380–7.CrossRefGoogle Scholar
  25. 25.
    Gardner DK, Lane M, Stevens J, Schlenker T, Schoolcraft WB. Blastocyst score affects implantation and pregnancy outcome: towards a single blastocyst transfer. Fertil Steril. 2000;73:1155–8.CrossRefGoogle Scholar
  26. 26.
    Munne S, Escudero T, Sandalinas M, Sable D, Cohen J. Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet. 2000;90:303–8.CrossRefGoogle Scholar
  27. 27.
    Stahl A, Luciani JM, Hartung M, Devictor M, Berge-Lefranc JL, Guichaoua M. Structural basis for Robertsonian translocations in man: association of ribosomal genes in the nucleolar fibrillar center in meiotic spermatocytes and oocytes. Proc Natl Acad Sci U S A. 1983;80:5946–50.CrossRefGoogle Scholar
  28. 28.
    Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, et al. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014;101:656–63 e1.CrossRefGoogle Scholar
  29. 29.
    Chang EM, Han JE, Kwak IP, Lee WS, Yoon TK, Shim SH. Preimplantation genetic diagnosis for couples with a Robertsonian translocation: practical information for genetic counseling. J Assist Reprod Genet. 2012;29:67–75.CrossRefGoogle Scholar
  30. 30.
    Idowu D, Merrion K, Wemmer N, Mash JG, Pettersen B, Kijacic D, et al. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril. 2015;103:1037–42.CrossRefGoogle Scholar
  31. 31.
    Ikuma S, Sato T, Sugiura-Ogasawara M, Nagayoshi M, Tanaka A, Takeda S. Preimplantation genetic diagnosis and natural conception: a comparison of live birth rates in patients with recurrent pregnancy loss associated with translocation. PLoS One. 2015;10:e0129958.CrossRefGoogle Scholar

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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