45,X/46,XY染色体嵌合型不育症一例

doi:10.12280/gjszjk.20230265

摘要/Abstract

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。

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

Abstract:

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.

Key words: Sex chromosome aberrations, Chimera, Azoospermia, Gonadal dysgenesis, Turner syndrome

张晓翠, 于丽菲, 杨跃伟, 刘云静, 黄卫东, 伊江燕, 张雪萍. 45,X/46,XY染色体嵌合型不育症一例[J]. 国际生殖健康/计划生育杂志, 2024, 43(1): 20-23.

ZHANG Xiao-cui, YU Li-fei, YANG Yue-wei, LIU Yun-jing, HUANG Wei-dong, YI Jiang-yan, ZHANG Xue-ping. A Case of 45,X/46,XY Chromosomal Mosaic Infertility[J]. Journal of International Reproductive Health/Family Planning, 2024, 43(1): 20-23.

图/表 4

图1 患者的外生殖器

图2 患者的外周血淋巴细胞染色体核型分析注：A 染色体核型为45,X；B 染色体核型为46,XY。

图3 全基因组CNV检测图谱注：-(mosaic)(Y)(64%)。

图4 生殖系统彩色多普勒超声图注：A为睾丸组织及双侧精索静脉；B为双侧腹股沟区扫查类睾丸组织；C为前列腺；D为双侧精囊。

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