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

  • Bibhas Kar
  • Subbiah Sivamani
  • Shankar Kundavi
  • Thankam Rama Varma
Original Article



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.


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.


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.


Infertility Cytogenetics Robertsonian translocation Intracytoplasmic sperm injection 


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.

Compliance with Ethical Standards

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.


  1. 1.
    Piomboni P, Stendardi A, Gambera L. Chromosomal aberrations and aneuploidies of spermatozoa. Adv Exp Med Biol. 2014;791:27–52.CrossRefPubMedGoogle Scholar
  2. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Howe B, Umrigar A, Tsien F. Chromosome preparation from cultured cells. J Vis Exp. 2014;83:e50203.Google Scholar
  4. 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. 5.
    Jordan JM, Simons A, Schmid M. ISCN 2016: An International System for Human Cytogenomics Nomenclature. Basel: S Karger; 2016.CrossRefGoogle Scholar
  6. 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.CrossRefPubMedGoogle Scholar
  7. 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.CrossRefGoogle Scholar
  8. 8.
    Pylyp LY, Zukin VD, Bilko NM. Chromosomal segregation in sperm of Robertsonian translocation carriers. J Assist Reprod Genet. 2013;30(9):1141–5.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 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. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  11. 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.CrossRefGoogle Scholar
  12. 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.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Federation of Obstetric & Gynecological Societies of India 2017

Authors and Affiliations

  • Bibhas Kar
    • 1
  • Subbiah Sivamani
    • 1
  • Shankar Kundavi
    • 2
  • Thankam Rama Varma
    • 2
  1. 1.Center for Genetic Studies and ResearchThe Madras Medical MissionChennaiIndia
  2. 2.Institute of Reproductive Medicine and Woman HealthThe Madras Medical MissionChennaiIndia

Personalised recommendations