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
张晓翠 1于丽菲 1杨跃伟 1刘云静 1黄卫东 1伊江燕 1张雪萍1
作者信息
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.
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.
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Key words
Sex chromosome aberrations/Chimera/Azoospermia/Gonadal dysgenesis/Turner syndrome引用本文复制引用
基金项目
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)
出版年
2024
国家科技期刊平台
NSTL
维普
万方数据