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• W1845535362 abstract "The meiotic behaviour of the germ cells in 45,X/46,XY men has not been extensively studied. This study investigated the meiotic events and sperm aneuploidy in an azoospermic man with a 45,X/46,XY (50/50) mosaic karyotype to better understand the fate of the 45,X cells and the production of chromosomally abnormal spermatozoa. Combining immunofluorescence techniques and fluorescence in-situ hybridization, meiotic recombination, synapsis, meiotic sex chromosome inactivation (MSCI) and configuration were analysed, as well as sperm aneuploidy in the patient and 10 normal, fertile men. Despite the 50:50 somatic mosaicism in the patient, 25% of pachytene cells analysed were 45,X. Furthermore, 63% of pachytene cells were 46,XY with paired sex chromosomes, and 12% were 46,XY with unpaired sex chromosomes, which displayed abnormal MCSI patterns. Although the patient's testicular spermatozoa showed increased aneuploidy, the majority were of normal constitution. The X:Y sperm ratio was significantly increased compared with the controls (P < 0.001), which may indicate that some 45,X cells gave rise to X-bearing spermatozoa. The findings provide insight into the fate of 45,X/46,XY cells in meiosis, supporting the hypothesis that stringent checkpoints ensure the favourable production of spermatozoa with normal chromosomal constitution despite an individual's abnormal karyotype." @default.
• W1845535362 created "2016-06-24" @default.
• W1845535362 creator A5030598230 @default.
• W1845535362 creator A5080677343 @default.
• W1845535362 creator A5084118385 @default.
• W1845535362 date "2015-12-01" @default.
• W1845535362 modified "2023-10-16" @default.
• W1845535362 title "Meiotic behaviour and sperm aneuploidy in an infertile man with a mosaic 45,X/46,XY karyotype" @default.
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• W1845535362 doi "https://doi.org/10.1016/j.rbmo.2015.08.016" @default.
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