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A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

29 Mar 2021

Abstract excerpt

Male infertility is a prevalent condition, affecting 5–10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c ( AZFc ) region, combined with gene dosage analysis of the multicopy DAZ, BPY2 , and CDY genes and Y-haplogroup determination. In analysing 2324 Estonian men, we uncovered...

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PMID: 33781384
DOI: 10.7554/elife.65420

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