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。
A Case of 45,X/46,XY Chromosomal Mosaic Infertility
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.
Sex chromosome aberrationsChimeraAzoospermiaGonadal dysgenesisTurner syndrome
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