A Case of 45,X/46,XY Chromosomal Mosaic Infertility
ZHANG Xiao-cui
YU Li-fei
YANG Yue-wei
LIU Yun-jing
HUANG Wei-dong
YI Jiang-yan
ZHANG Xue-ping
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.
Keywords：Sex chromosome aberrationsChimeraAzoospermiaGonadal dysgenesisTurner syndrome
Publication Date：2024-01-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 20-23 )