Skip to main content
SpringerLink
Log in

Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Complex chromosomal rearrangements (CCR) are rare rearrangements involving more than two chromosomes and more than two breakpoints. CCR are associated with male infertility as a result of the disruption of spermatogenesis due to complex meiotic configurations and the production of chromosomally abnormal sperm. We examined a carrier of a t(1:2:10) CCR in order to determine the patterns of segregation and any presence of an interchromosomal effect (ICE).

Methods

Centromeric, locus specific and telomeric probes (Vysis, USA) were used for the study. On ~1,000 sperm nuclei from the reciprocal translocation carrier, dual color Fluorescence in situ hybridization (FISH) was performed on each of the involved chromosomes to determine the patterns of segregation. FISH was also performed on chromosome 13, 18, 21, X and Y to determine any ICE.

Results

We observed abnormal chromosome complements in 24.3%, 19.5% and 15.8% of sperm for chromosomes 2, 10 and 1, respectively. There was a significantly increased rate of ICEs for chromosomes 13 and 21 when compared with controls.

Conclusions

CCR may present a lower risk for producing unbalanced chromosomes than other studies have indicated. CCRs may be at an increased risk for ICE especially among acrocentric chromosomes.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Pai GS, Thomas GH, Mahoney W, Migeon BR. Complex chromosome rearrangements. Report of a new case and literature review. Clin Genet. 1980;18:436–44.

    Article  PubMed  CAS  Google Scholar 

  2. Sadallah N, Hulten M. A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility. Hum Genet. 1985;71:312–20.

    Article  Google Scholar 

  3. Johannisson R, Lohrs U, Passarge E. Pachytene analysis in males heterozygous for a familial translocation (9;12;13)(q22;q22;q32) ascertained through a child with partial trisomy 9. Cytogenet Cell Genet. 1988;47:160–6.

    Article  PubMed  CAS  Google Scholar 

  4. Kovacs A, Villagomez DA, Gustavsson I, Lindblad K, Foote RH, Howard TH. Synaptonemal complex analysis of a three-breakpoint translocation in a subfertile bull. Cytogenet Cell Genet. 1992;61:195–201.

    Article  PubMed  CAS  Google Scholar 

  5. Lejeune J. Autosomal Disorders Pediatrics. 1963;32:326–37.

    CAS  Google Scholar 

  6. Tang SS, Gao H, Robinson WP, Ho Yuen B, Ma S. An association between sex chromosomal aneuploidy in sperm and an abortus with 45, X of paternal origin: possible transmission of chromosomal abnormalities through ICSI. Hum Reprod. 2004;19:147–51.

    Article  PubMed  CAS  Google Scholar 

  7. Kirkpatrick G, Ferguson KA, Gao H, Tang S, Chow V, Yuen BH, et al. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod. 2008;23:1679–83.

    Article  PubMed  Google Scholar 

  8. Cifuentes P, Navarro J, Miguez L, Egozcue J, Benet J. Sperm segregation analysis of a complex chromosome rearrangement, 2;22;11, by whole chromosome painting. Cytogenet Cell Genet. 1998;82:204–9.

    Article  PubMed  CAS  Google Scholar 

  9. Pellestor F, Anahory T, Lefort G, Puechberty J, Liehr T, Hédon B, et al. Complex chromosomal rearrangements: origin and meiotic behavior. Hum Reprod Update. 2011;4:476–94.

    Article  Google Scholar 

  10. Loup V, Bernicot I, Janssens P, Hedon B, Hamamah S, Pellestor F, et al. Combined FISH and PRINS sperm analysis of complex chromosome rearrangement t(1;19;13): an approach facilitating PGD. Mol Hum Reprod. 2010;16:111–6.

    Article  PubMed  CAS  Google Scholar 

  11. Lu PY, Hammitt DG, Zinsmeister AR, Dewald GW. Dual color fluorescence in situ hybridization to investigate aneuploidy in sperm from 33 normal males and a man with a t(2;4;8)(q23;q27;p21). Fertil Steril. 1994;62:394–9.

    PubMed  CAS  Google Scholar 

  12. Lespinasse J, Rethore MO, North MO, Bovier-Lapierre M, Lundsteen C, Fert-Ferrer, et al. Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases. Ann Genet. 2004;47:315–24.

    Article  PubMed  CAS  Google Scholar 

  13. Ferguson KA, Chow V, Ma S. Silencing of unpaired meiotic chromosomes and altered recombination patterns in an azoospermic carrier of a t(8;13) reciprocal translocation. Hum Reprod. 2008;23:988–95.

    Article  PubMed  CAS  Google Scholar 

  14. Coco R, Rahn MI, Estanga PG, Antonioli G, Solari AJ. A constitutional complex chromosome rearrangement involving meiotic arrest in an azoospermic male: case report. Hum Reprod. 2004;19:2784–90.

    Article  PubMed  CAS  Google Scholar 

  15. Roeder GS, Bailis JM. The pachytene checkpoint. Trends Genet. 2000;16:395–403.

    Article  PubMed  CAS  Google Scholar 

  16. Eaker S, Pyle A, Cobb J, Handel MA. Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromozome heterozygous mice. J Cell Sci. 2001;114:2953–65.

    PubMed  CAS  Google Scholar 

Download references

Acknowledgements

We thank the study participants for donating samples. This work was funded by the Canadian Institute of Health Research (MOP53067 to S.M.). GK is a recipient of a graduate studentship from the Natural Sciences and Engineering Research Council of Canada.

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, Canada

    Gordon Kirkpatrick

  2. Department of Obstetrics and Gynaecology, University of British Columbia, D6-4500 Oak Street, Vancouver, BC V6H 3N1, Canada

    Sai Ma

Authors
  1. Gordon Kirkpatrick
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sai Ma
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sai Ma.

Additional information

Capsule

Fluorescence in-situ hybridization examination of meiotic segregation and interchromosomal effects in a complex chromosomal rearrangement indicate a frequency of sperm with abnormal chromosome complements comparable with simpler reciprocal translocations.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kirkpatrick, G., Ma, S. Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement. J Assist Reprod Genet 29, 77–81 (2012). https://doi.org/10.1007/s10815-011-9655-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-011-9655-0

Keywords

Search

Navigation