A Case of 45,X/46,XY Chromosomal Mosaic Infertility

doi:10.12280/gjszjk.20230265

Abstract

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

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.

Figures/Tables 4

References 22

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