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Genetic defects in human azoospermia

22 Apr 2019

Abstract excerpt

As with many other diseases, genetic testing in human azoospermia was initially restricted to karyotype analyses (leading to diagnostic chromosome rearrangement tests for Klinefelter and other syndromes). With the advent of molecular biology in the 1980s, genetic screening was broadened to analyses of Y chromosome microdeletions and the gene coding for the cystic fibrosis transmembrane conductance regulator (...

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PMID: 31024732
DOI: 10.1186/s12610-019-0086-6

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