国际生殖健康/计划生育杂志2024，Vol.43Issue(1)：20-23,4.DOI:10.12280/gjszjk.20230265
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
摘要
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
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):20-23,4.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) （SHB202009）
