45,X/46,XY染色体嵌合型不育症一例  

A Case of 45,X/46,XY Chromosomal Mosaic Infertility

作　　者：张晓翠 于丽菲 杨跃伟 刘云静 黄卫东 伊江燕 张雪萍 ZHANG Xiao-cui;YU Li-fei;YANG Yue-wei;LIU Yun-jing;HUANG Wei-dong;YI Jiang-yan;ZHANG Xue-ping(Jiayin Hospital,Urumqi 830001,China)

机构地区：[1]佳音医院,乌鲁木齐830001

出　　处：《国际生殖健康／计划生育杂志》2024年第1期20-23,共4页Journal of International Reproductive Health/Family Planning

基　　金：新疆维吾尔自治区社会办医疗机构协会“临床科研专项资金项目”(SHB202009)。

摘　　要：45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。45,X/46,XY chromosomal mosaic is a relatively rare disease in clinical.Patients with this type of chromosomal mosaic manifest either male or female external characteristics,with clinical features resembling Turner syndrome but milder in severity.We report a case of male phenotype patient who sought medical attention for infertility.Through G-banding chromosome karyotype analysis and whole-genome copy number variation(CNV)analysis of peripheral blood DNA,the patient was diagnosed with 45,X/46,XY chromosomal mosaic.A total of 50 chromosome karyotypes from peripheral blood lymphocytes were analyzed,revealing a karyotype diagnosis of 45,X[27]/46,XY[23].Whole-genome CNV analysis detected a mosaic pattern with partial loss of the Y chromosome(64%),while Y chromosome microdeletion analysis did not show any noticeable abnormalities.The cases of 45,X/46,XY chromosomal mosaic with male phenotype are relatively uncommon.In this specific case,the patient exhibited a short stature and genital deformity,representing a milder clinical phenotype.

关 键 词：性染色体畸变 嵌合体 无精子症 性腺发育不全 特纳综合征 

分 类 号：R698.2[医药卫生—泌尿科学]