Among apparently healthy men who nonetheless produce few or no sperm, about ten percent have microdeletions on their Y chromosome. Most of these de novo mutations occur in the AZFc region on the long arm of the chromosome. The high frequency of deletion is explained by the extraordinary structure of the region, which consists almost entirely of very long repeat units.
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Yen, P. The fragility of fertility. Nat Genet 29, 243–244 (2001). https://doi.org/10.1038/ng1101-243
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DOI: https://doi.org/10.1038/ng1101-243
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