Wafa Slimani1,2,3, Afef Jelloul1, Ahmed Al-Rikabi4, Amira Sallem1, Yosra Hasni5, Salma Chachia6, Adel Ernez7, Anouar Chaieb6, Mohamed Bibi6, Thomas Liehr4, Ali Saad1,3, Soumaya Mougou-Zerelli8,9. 1. Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. 2. Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia. 3. Unité de Services Communs en Génétique Humaine, Université de Sousse, Faculté de Médecine de Sousse, Sousse, Tunisia. 4. Institute of Human Genetics, Jena, Germany. 5. Department of Endocrinology-Diabetology, Farhat Hached University Hospital, Sousse, Tunisia. 6. Department of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, Tunisia. 7. Private Gynecologist, Sousse, Tunisia. 8. Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. mougousoumaya@yahoo.fr. 9. Unité de Services Communs en Génétique Humaine, Université de Sousse, Faculté de Médecine de Sousse, Sousse, Tunisia. mougousoumaya@yahoo.fr.
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.
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 infertilepatients. 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.
Entities:
Keywords:
Aneuploidy; Fluorescence in situ hybridization (FISH); Infertility; Small supernumerary marker chromosomes (sSMC); Spermatogenesis
Authors: Elisabeth Klein; Marina Manvelyan; Isabella Simonyan; Ahmed B Hamid; Roberta Santos Guilherme; Thomas Liehr; Tatyana Karamysheva Journal: Mol Cytogenet Date: 2012-03-14 Impact factor: 2.009
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