首页> 外文期刊>Comptes rendus. Biologies >Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department
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Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department

机译:在突尼斯细胞遗传学科室的一组突尼斯非阻塞性无精子症和严重少精子症患者的染色体评估

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Male infertility is the cause in half of all childless partnerships. Numerous factors contribute to male infertility, including chromosomal aberrations and gene defects. Few data exist regarding the association of these chromosomal aberrations with male infertility in Arab and North African populations. We therefore aimed to evaluate the frequency of chromosomal aberrations in a sample of 476 infertile men with nonobstructive azoospermia (n = 328) or severe oligozoospermia (n = 148) referred for routine cytogenetic analysis to the department of cytogenetics of the Pasteur Institute of Tunis. The overall incidence of chromosomal abnormalities was about 10.9%. Out of the 52 patients with abnormal cytogenetic findings, sex chromosome abnormalities were observed in 42(80.7%) including Klinefelter syndrome in 37(71%). Structural chromosome abnormalities involving autosomes (19.2%) and sex chromosomes were detected in 11 infertile men. Abnormal findings were more prevalent in the azoospermia group (14.02%) than in the severe oligozoospermia group (4.05%). The high frequency of chromosomal alterations in our series highlights the need for efficient genetic testing in infertile men, as results may help to determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations
机译:男性不育是所有无子女伴侣中一半的原因。导致男性不育的因素很多,包括染色体畸变和基因缺陷。关于这些染色体畸变与阿拉伯和北非人口中男性不育的关系,目前尚无数据。因此,我们旨在评估476名不梗阻性无精子症(n = 328)或严重少精子症(n = 148)的不育男性的样本中染色体畸变的频率,这些样本用于常规细胞遗传学分析,该研究由突尼斯巴斯德研究所的细胞遗传学部门进行。染色体异常的总发生率约为10.9%。在52例细胞遗传学异常的患者中,有42例(80.7%)观察到性染色体异常,其中37例(71%)包括克林费尔特综合征。在11名不育男性中检测到涉及常染色体(19.2%)和性染色体的结构性染色体异常。无精症组(14.02%)的异常发现比重度少精症组(4.05%)更为普遍。我们系列中染色体改变的高频率凸显了对不育男性进行有效基因检测的必要性,因为结果可能有助于确定预后以及选择辅助生殖技术。此外,基因研究可以将遗传异常传给后代的风险降到最低

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