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