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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 Gynaecol India. 2017;68(2):93-97doi: 10.1007/s13224-017-0999-y.
Kar, B., Sivamani, S., Kundavi, S., & Varma, T. R. (2018). The Importance of Cytogenetics and Associated Molecular Techniques in the Management of Patients Carrying Robertsonian Translocation and Their Pregnancy Outcome by Intracytoplasmic Sperm Injection. Journal of obstetrics and gynaecology of India, 68(2), 93-97. https://doi.org/10.1007/s13224-017-0999-y
Kar, Bibhas, 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." Journal of obstetrics and gynaecology of India vol. 68,2 (2018): 93-97. doi: https://doi.org/10.1007/s13224-017-0999-y
Kar B, Sivamani S, Kundavi S, Varma TR. 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 Gynaecol India. 2018 Apr;68(2):93-97. doi: 10.1007/s13224-017-0999-y. Epub 2017 May 04. PMID: 29662277; PMCID: PMC5895556.
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J Obstet Gynaecol India. 2018 Apr;68(2):93-97. doi: 10.1007/s13224-017-0999-y. Epub 2017 May 04.

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

Journal of obstetrics and gynaecology of India

Bibhas Kar, Subbiah Sivamani, Shankar Kundavi, Thankam Rama Varma

Affiliations

  1. 1Center for Genetic Studies and Research, The Madras Medical Mission, Chennai, 600037 India.
  2. 2Institute of Reproductive Medicine and Woman Health, The Madras Medical Mission, Chennai, India.

PMID: 29662277 PMCID: PMC5895556 DOI: 10.1007/s13224-017-0999-y

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.

Keywords: Cytogenetics; Infertility; Intracytoplasmic sperm injection; Robertsonian translocation

Conflict of interest statement

Compliance with Ethical StandardsThe authors declare that they have no conflict of interest.Written informed consent was obtained from the patient’s/legal guardian(s) for publication of this case repo

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