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Current Trends in Clinical Embryology

40 years of AZF locus

Original Article, 14 - 20
doi: 10.11138/cce/2017.4.1.014
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Abstract
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The most common genetic causes of male infertility are chromosomal conditions that affect sperm production. Klinefelter syndrome, discovered in 1959, is the first identified chromosomal alteration leading to infertility as the main clinical sign. Afterwards, several genes involved in the control of male reproduction have been disclosed and an alteration even just in one of these genes can be responsible for infertility.
This paper provides an overview of the characterization of Yq chromosome regions, implicated in the failure of male gametogenesis, and of the molecular, diagnostic and phenotypic aspects linked to the Yq microdeletions.
The discovery of the AZF locus in 1976, exactly 40 years ago, is the starting point of our history.

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  1. 40 years of AZF locus
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    doi: 10.11138/cce/2017.4.1.014
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