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首页> 外文期刊>Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society >A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set.
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A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set.

机译：少突肌少精症患者精子染色体异常的新方法：使用一个探针组通过五色荧光原位杂交检测双非整倍性以及单非整倍性和二倍性。

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OBJECTIVE: To determine the frequencies of disomy, nullisomy, total aneuploidy, and diploidy in the sperms of infertile men. DESIGN: A controlled prospective study. SETTING: Assisted reproductive technology (ART)/IVF Unit and Department of Medical Biology and Genetics, Meram Medical Faculty, Konya, Turkey. PATIENT(S): Infertile men with oligoasthenoteratozoospermia (OAT) and normal fertile donors. INTERVENTION(S): After slide preparation from semen samples, sperm nuclei were analyzed for chromosomes 13, 18, 21, X, and Y by five-color fluorescence in situ hybridization. MAIN OUTCOME MEASURE(S): The sperm aneuploidy (disomy and nullisomy) and diploidy rates were determined according to the number of signals detected for each probe in infertile and fertile men. RESULTS: Patients with OAT had a significantly higher incidence of disomy (except chromosome 18 and XX disomy), nullisomy (except chromosome 18), and diploidy than normal fertile controls. In addition to double disomy, double nullisomy and disomy+nullisomy were observed in patients with OAT, but none of these were seen in controls. CONCLUSION(S): In this study patients with OAT had an increased rate of sperm aneuploidy and diploidy. This finding suggest that patients with OAT may be at an increased risk of producing aneuploid and triploid offsprings. For this reason, it may be very important to perform the sperm fluorescence in situ hybridization in patients with OAT. Thus, a more informative genetic counseling might be given to couples with male factor infertility who are at an increased risk of having aneuploid offsprings and triploid conceptions before intracytoplasmic sperm injection (ICSI).
机译：目的：确定不育男性精子中二体性，无效性，总非整倍性和二倍体的频率。设计：一项对照的前瞻性研究。地点：土耳其科尼亚梅拉姆医学院辅助生殖技术（ART）/ IVF部门和医学生物学与遗传学系。患者：患有少脂少肌精子症（OAT）和正常可育供体的不育男性。干预：从精液样品中制备载玻片后，通过五色荧光原位杂交分析精子核的13、18、21，X和Y染色体。主要观察指标：根据在不育和可育男性中每种探针检测到的信号数量，确定精子非整倍性（二体化和无效性）和二倍体率。结果：与正常的可育对照组相比，OAT患者的二体性（18号染色体和XX号二倍体除外），零等体（18号染色体除外）和二倍体的发生率均比正常可育对照组高。除了双重二倍体切开术外，OAT患者还观察到双重零切开术和二倍体切开+零切开术，但在对照组中均未见到。结论：在该研究中，OAT患者的精子非整倍性和二倍体率增加。这一发现表明，OAT患者产生非整倍体和三倍体后代的风险可能更高。因此，在OAT患者中进行精子荧光原位杂交可能非常重要。因此，对于胞质内精子注射（ICSI）前具有非整倍体后代和三倍体受孕风险较高的男性因素不育夫妇，可能会提供更多信息的遗传咨询。

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