中国妇幼健康研究2026，Vol.37Issue(9)：7-14,8.DOI:10.3969/j.issn.1673-5293.2026.09.002
标记染色体的临床效应与生殖结局的关联性研究
Association between theclinical effects of marker chromosomes and reproductive outcomes
摘要
Abstract
Objective To analyze the impact of marked chromosomes on patients undergoing assisted reproductive technology(ART).Methods A retrospective analysis was conducted on 106 247 patients who visited the Hosptial for Reproductive Medicine Affiliated to Shandong Univerisity from January 2017 to December 2021.Patients with normal chromosomal karyotypes were assigned to the control group,while those with karyotypes showing an extra marked chromosome were assigned to the"mar"group.A comparative analysis was performed between the two groups of male patients regarding semen analysis results,sex hormone levels,Y-chromosome azoospermia factor(AZF)testing for male patients,as well as sex hormone levels and embryo characteristics for female patients.Results Among the 106,247 patients,49 cases with marker chromosomes were identified,representing an overall detection rate of 0.05％.These included 17 cases of 47,XX+mar,15 cases of 47,XY+mar,15 cases of chimeric marker chromosomes,1 case of 48,XY+2mar,and 1 case of 47,XX,t(2;14)(p16q21)+mar.Compared with the control group,the male mar group exhibited statistically significant decreases in semen density,sperm motility,normal morphology rate,forward sperm motility rate,and non-forward sperm motility rate,as well as elevated LH levels(t-values ranged from-5.41 to-2.72,P<0.05);In the female mar group,there were no statistically significant differences in sex hormone levels or embryo outcome indicators compared with the control group(P>0.05).Conclusion Marker chromosomes are associated with male spermatogenic dysfunction and can significantly reduce semen quality.A comprehensive assessment combining karyotype characteristics,clinical phenotype,and endocrine indicators should be conducted to provide patients with precise genetic counseling and fertility intervention guidance.关键词
标记染色体/核型分析/精液/激素水平/辅助生殖Key words
marker chromosome/karyotype analysis/semen/hormone level/assisted reproductive technology分类
医药卫生引用本文复制引用
郑莉,高选,马金龙,邹洋,张晓冬,陈虹,赵冰清,王鑫,赵丽娟..标记染色体的临床效应与生殖结局的关联性研究[J].中国妇幼健康研究,2026,37(9):7-14,8.基金项目
国家重点研发计划(2024YFC2706700) （2024YFC2706700）
山东省重点研发计划(重大科技创新工程)(2023ZLGX02) （重大科技创新工程）
山东省医药卫生科技项目(202411000927,202401030872,202511000544) （202411000927,202401030872,202511000544）
