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| Li,Leilei; Zhang,Han; Yang,Yi; Zhang,Hongguo; Wang,Ruixue; Jiang,Yuting; Liu,Ruizhi. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 45; X/46; XY mosaicism Y chromosome microdeletions Male infertility Azoospermia Oligozoospermia. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2020000300605 |
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