Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
Biochem Biophys Res Commun. 2013 Mar 15;432(3):472-4. doi: 10.1016/j.bbrc.2013.01.110. Epub 2013 Feb 8.
Chromosome aberrations are found in 2-7% of couples with fertility problems and pericentric inversions are structural chromosomal abnormalities, potentially associated with infertility or multiple miscarriages. In this study, we report the first case of pericentric inversion of chromosome 12 associated with non-obstructive azoospermia. A karyogram revealed pericentric inversion of chromosome 12 with breakpoints at 12p12 and 12q12. Testicular histopathology confirmed the Sertoli cell-only syndrome.
染色体异常在 2-7%的生育问题夫妇中发现，而中央着丝粒倒位是一种结构性染色体异常，可能与不孕或多次流产有关。在本研究中，我们报告了首例与非梗阻性无精子症相关的 12 号染色体中央着丝粒倒位病例。核型分析显示 12 号染色体中央着丝粒倒位，断裂点位于 12p12 和 12q12。睾丸组织病理学证实为唯支持细胞综合征。
