Skip to main content
SpringerLink
Log in

The Importance of Cytogenetics and Associated Molecular Techniques in the Management of Patients Carrying Robertsonian Translocation and Their Pregnancy Outcome by Intracytoplasmic Sperm Injection

  • Original Article
  • Published:
The Journal of Obstetrics and Gynecology of India Aims and scope Submit manuscript

Abstract

Objective

The present study outlines three cases of a Robertsonian translocation and the consequences for the initiation of pregnancy by intracytoplasmic sperm injection (ICSI). Three case histories are presented documenting structural chromosome abnormalities in infertile males.

Materials and Methods

Semen analysis was performed according to the World Health Organization guidelines. Chromosome analysis was performed using G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction assays.

Results

Cytogenetic analysis revealed Robertsonian translocation 45,XY,der(14;21)(q10;q10) in a male with severe oligoasthenoteratozoospermia (SOAT) after three subsequent ICSI treatments were unsuccessful. The second case involved a Robertsonian translocation 45,XY,der(13,14)(q10;q10) with SOAT detected in a male after one pregnancy loss. Third case involved a Robertsonian translocation 45,XY,der(13,14)(q10;q10) with SOAT.

Conclusion

This case series emphasize the necessity of cytogenetic analysis of couples with primary infertility and recurrent miscarriages before any assisted reproductive technology is performed. For couples in whom one or more partners have a translocation, prenatal genetic diagnosis/preimplantation genetic diagnosis is recommended.

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
Fig. 3

Similar content being viewed by others

References

  1. Piomboni P, Stendardi A, Gambera L. Chromosomal aberrations and aneuploidies of spermatozoa. Adv Exp Med Biol. 2014;791:27–52.

    Article  PubMed  Google Scholar 

  2. Vozdova M, Oracova E, Kasikova K, et al. Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy. J Assist Reprod Genet. 2013;30(3):391–405.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Howe B, Umrigar A, Tsien F. Chromosome preparation from cultured cells. J Vis Exp. 2014;83:e50203.

    Google Scholar 

  4. Veerabhadrappa SK, Chandrappa PR, Roodmal SY, et al. Karyotyping: current perspectives in diagnosis of chromosomal disorders. Sifa Med J. 2016;3:35–40.

    Google Scholar 

  5. Jordan JM, Simons A, Schmid M. ISCN 2016: An International System for Human Cytogenomics Nomenclature. Basel: S Karger; 2016.

    Book  Google Scholar 

  6. Krausz C, Hoefsloot L, Simoni M, et al. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014;2(1):5–19.

    Article  CAS  PubMed  Google Scholar 

  7. Changa YM, Chena LC, Chena CY, et al. Robertsonian translocations: an overview of a 30-year experience in a single tertiary medical center in Taiwan. J Chin Med Assoc. 2013;76(6):335–9.

    Article  Google Scholar 

  8. Pylyp LY, Zukin VD, Bilko NM. Chromosomal segregation in sperm of Robertsonian translocation carriers. J Assist Reprod Genet. 2013;30(9):1141–5.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Abadi MHN, Baghbani F, Namazi I, et al. Robertsonian translocation between chromosomes (no. 21/14) in relation to the history of spontaneous abortion in a family. Iran. J Reprod Med. 2014;12(8):581–5.

    Google Scholar 

  10. Zheng HY, Li Y, Shen FJ, et al. A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions. J Assist Reprod Genet. 2014;31(5):613–20.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Karakus N, Kara N, Tural S, et al. A retrospective study of balanced chromosomal translocations in a Turkish population. Int J Hum Genet. 2012;12:319–23.

    Article  Google Scholar 

  12. Kohn TP, Clavijo R, Ramasamy R, et al. Reproductive outcomes in men with karyotype abnormalities: case report and review of the literature. Can Urol Assoc J. 2015;9(9–10):E667–70.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Authors’ contributions

BK conceived and designed the research article. He performed genetic evaluation and clinical review of the family. He also provided genetic counseling to the patients and their families. Sample collection, processing and genetic analysis were done by SS. BK and SS wrote the draft of the manuscript. SK and TRV referred the families for genetic studies and provided medical management for the patients. All authors participated in revising the manuscript for publication.

Author information

Authors and Affiliations

  1. Center for Genetic Studies and Research, The Madras Medical Mission, Chennai, 600037, India

    Bibhas Kar & Subbiah Sivamani

  2. Institute of Reproductive Medicine and Woman Health, The Madras Medical Mission, Chennai, India

    Shankar Kundavi & Thankam Rama Varma

Authors
  1. Bibhas Kar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Subbiah Sivamani
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Shankar Kundavi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Thankam Rama Varma
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bibhas Kar.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Consent for Publication

Written informed consent was obtained from the patient’s/legal guardian(s) for publication of this case report.

Additional information

Dr. Bibhas Kar is a Consultant and Head of Center for Genetic Studies and Research, The Madras Medical Mission, Chennai, India. Subbiah Sivamani is a Research Associate of Center for Genetic Studies and Research, The Madras Medical Mission, Chennai, India. Shankar Kundavi is a Senior Consultant of Institute of Reproductive Medicine & Women’s Health, The Madras Medical Mission, Chennai, India. Thankam Rama Varma is a Medical Director of Institute of Reproductive Medicine & Women’s Health, The Madras Medical Mission, Chennai, India.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kar, B., Sivamani, S., Kundavi, S. et al. The Importance of Cytogenetics and Associated Molecular Techniques in the Management of Patients Carrying Robertsonian Translocation and Their Pregnancy Outcome by Intracytoplasmic Sperm Injection. J Obstet Gynecol India 68, 93–97 (2018). https://doi.org/10.1007/s13224-017-0999-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13224-017-0999-y

Keywords

Search

Navigation