ArticleBrazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica2020
High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism.
Article in Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 17 citations in OpenAlex.
- Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.F&S reports · 2026Article
- Diagnostic Accuracy and Chromosomal Microarray and Karyotype Analysis with Different Clinical Biomarkers for Prenatal Diagnosis of Fetal Genetic Diseases.Iranian journal of public health · 2025Article
- Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men's Health.International journal of molecular sciences · 2024Review
- Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome.Frontiers in pediatrics · 2022Article
- Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.Journal of human genetics · 2021Article
- Application value of NIPT for uncommon fetal chromosomal abnormalities.Molecular cytogenetics · 2020Article
- A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion.Journal of reproduction & infertilityArticle
- Mosaic loss of the Y chromosome and men's health.Reproductive medicine and biologyReview
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Authors and funding
7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.
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