Startseite Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men
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Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men

  • Ozlem Oz ORCID logo EMAIL logo
Veröffentlicht/Copyright: 8. März 2021
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Abstract

Objectives

Chromosome anomalies and Y chromosome microdeletions are one of the reasons that can be seen in infertile patients and affect fertility. In this study, it was aimed to determine the frequencies of chromosomal anomalies and Y chromosome microdeletions in primary infertile male patients.

Methods

We included 374 patients with primary infertility in this study. Cytogenetic analysis was performed with the GTG banding technique by using trypsin and Giemsa stain. Y microdeletion analysis was studied by multiplex polymerase chain reaction using 28 Y chromosome-specific sequence-tagged sites.

Results

Chromosomal irregularities were detected in 27 (7.22%) of infertile cases. It was observed that 7 (25.92%) of chromosomal irregularities detected in cases were in autosomal and 20 (%74.08) were in gonosomal chromosomes. The incidence of Y chromosome microdeletion was 1.07% (4/374) and the microdeletions were observed in AZFb, AZFc and AZFd regions. AZFc + AZFd deletion was detected in three patients (0.81%) and AZFb + AZFc + AZFd deletion in one patient (0.26%).

Conclusions

In conclusion, gonosomal chromosome irregularity was higher than autosomal chromosome irregularity in infertile men. The frequency of Y microdeletion has different rates according to some factors such as ethnic differences of patients, patient selection criteria, differences in the number of cases, and methodological aspects.


Corresponding author: Ozlem Oz, Department of Medical Genetics, Faculty of Medicine, Harran University, Osmanbey Campus, 63000, Sanliurfa, Turkey, Phone: +90 414 3444444, Fax: +90 414 3444169, E-mail:

Acknowledgments

We are grateful to the patients, their cooperation made this work possible.

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Ethical approval: This study was approved by the Harran University Clinical Research Ethics Committee and the universal principles of the Helsinki Declaration were applied to the study.

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Received: 2021-01-17
Accepted: 2021-02-22
Published Online: 2021-03-08

© 2021 Walter de Gruyter GmbH, Berlin/Boston

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