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Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To characterize small supernumerary marker chromosomes (sSMC) in infertile males

Research question

Are molecular cytogenetic methods still relevant for the identification and characterization of sSMC in the era of next-generation sequencing?

Methods

In this paper, we report five males with oligoasthenozoospermia or azoospermia with a history of recurrent pregnancy loss in partnership in four cases. R-banding karyotyping and fluorescence in situ hybridization (FISH) analysis were performed and showed sSMC in all five cases. Microdissection and reverse-FISH were performed in one case.

Results

One sSMC, each, was derived from chromosome 15 and an X-chromosome; two sSMC were derivatives of chromosome 22. The fifth sSMC was a ring chromosome 4 complemented by a deletion of the same region 4p14 to 4p16.1 in one of the normal chromosomes 4. All markers were mosaics except one of sSMC(22).

Conclusion

Through this study, we emphasize the necessity of a proper combination of high-throughput techniques with conventional cytogenetic and FISH methods. This could provide a personalized diagnostic and accurate results for the patients suffering from infertility or RPL. We also highlight FISH analyses, which are essential tools for detecting sSMC in infertile patients. In fact, despite its entire composition of heterochromatin, sSMC can have effects on spermatogenesis by producing mechanical perturbations during meiosis and increasing meiotic nondisjunction rate. This would contribute to understand the exact chromosomal mechanism disrupting the natural and the assisted reproduction leading to offer a personalized support.

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Acknowledgments

We would like to thank all the technicians as well as the patients for their collaboration.

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Authors and Affiliations

  1. Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia

    Wafa Slimani, Afef Jelloul, Amira Sallem, Ali Saad & Soumaya Mougou-Zerelli

  2. Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia

    Wafa Slimani

  3. Unité de Services Communs en Génétique Humaine, Université de Sousse, Faculté de Médecine de Sousse, Sousse, Tunisia

    Wafa Slimani, Ali Saad & Soumaya Mougou-Zerelli

  4. Institute of Human Genetics, Jena, Germany

    Ahmed Al-Rikabi & Thomas Liehr

  5. Department of Endocrinology-Diabetology, Farhat Hached University Hospital, Sousse, Tunisia

    Yosra Hasni

  6. Department of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, Tunisia

    Salma Chachia, Anouar Chaieb & Mohamed Bibi

  7. Private Gynecologist, Sousse, Tunisia

    Adel Ernez

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  1. Wafa Slimani
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Correspondence to Soumaya Mougou-Zerelli.

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The local ethical board of Farhat Hached Hospital approved this work, and a written informed consent was taken from the couples.

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Slimani, W., Jelloul, A., Al-Rikabi, A. et al. Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives. J Assist Reprod Genet 37, 1729–1736 (2020). https://doi.org/10.1007/s10815-020-01811-9

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