Testicular mosaicism in non-mosaic Klinefelter Syndrome patients with focal spermatogenesis
Yazarlar (6)
Dr. Öğr. Üyesi Semir GÜL Malatya Turgut Özal Üniversitesi, Türkiye
Veerle Vloeberghs
Inge Gies
Herman Tournaye
Jean De Schepper
Ellen Goossens
| Bildiri Türü | Tebliğ/Bildiri | Bildiri Dili | İngilizce |
| Bildiri Alt Türü | Özet Metin Olarak Yayınlanan Tebliğ (Uluslararası Kongre/Sempozyum) | ||
| Bildiri Niteliği | Web of Science Kapsamındaki Kongre/Sempozyum | ||
| Kongre Adı | Europian Society of Human Reproduction (ESHRE2023) | ||
| Kongre Tarihi | 25-07-2023 / 27-07-2023 | ||
| Basıldığı Ülke | Danimarka | Basıldığı Şehir | |
| Bildiri Linki | https://academic.oup.com/humrep/article/38/Supplement_1/dead093.166/7202742 | ||
| UAK Araştırma Alanları |
Histoloji ve Embriyoloji
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| Özet |
| ObjectivesAlthough most non-mosaic Klinefelter Syndrome (KS) patients are azoospermic, some patients with focal spermatogenesis (FS) can have children with artificial reproductive technologies. However, the genetic origin of FS is unknown and the karyotype of testis-specific cells in FS regions has not been revealed so far.As in females, the histone-3-lysine-27-tri-methylation (H3K27me3) modification is involved in the suppression of the extra X chromosome and the formation of the inactive X (Xi) chromosome in KS patients. Therefore, immunohistochemical staining of H3K27me3 allows the cell-specific analysis of the X chromosome aneuploidy.This study aimed to investigate the genetic origin of focal spermatogenesis in KS patients by immunohistochemical staining of H3K27me2 and fluorescence in situ hybridization (FISH) of chromosomes X, Y, and 18.Materials and MethodsA total of 22 KS patients (17 adult … |
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