{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T05:24:33Z","timestamp":1775539473253,"version":"3.50.1"},"reference-count":58,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T00:00:00Z","timestamp":1564358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Approximately 15% of couples worldwide are affected with infertility, attributed to a male co\u2010factor in about half of the cases. Y chromosome microdeletions are the second most common genetic cause for male infertility, with a global prevalence of 2\u201310% in infertile men. Recently, <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>67, localized in X chromosome, has emerged as potential contributor to male infertility, with a described frequency of 1.1% in the oligo\/azoospermic men.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To investigate the prevalence of Y\u2010linked <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s in a cohort of Portuguese infertile men and correlate the patients\u2019 phenotypes with a genetic alteration; to investigate the <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>67 deletion in a subset of patients and corroborate the role of this <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content> in male infertility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>We retrospectively analysed a database of 4000 Portuguese infertile men for karyotype anomalies and Y microdeletions and selected a cohort of 400 for <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>67 screening analysis by quantitative <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> or single <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> plus\/minus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Karyotype anomalies were present in 263 patients (6.6%), with Klinefelter syndrome representing the most frequent karyotype anomaly (2.8%). Among the 4000 patients, the prevalence of Yq microdeletions was 4.6%. Ninety microdeletions (10.0%) were found in the azoospermic group, 44 deletions (4.5%) in the severe oligozoospermic group, 1 <jats:styled-content style=\"fixed-case\">AZF<\/jats:styled-content>c partial deletion (0.3%) in the mild\u2013moderate oligozoospermic group and 2 partial <jats:styled-content style=\"fixed-case\">AZF<\/jats:styled-content>c deletions (0.4%) in the normozoospermic group. Complete <jats:styled-content style=\"fixed-case\">AZF<\/jats:styled-content>c deletions represented 56.8% of the Yq microdeletions. The <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>67 deletion frequency was 1.2% in the studied sample.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study presents one of the largest samples of infertile men worldwide with the main purpose of correlating the Yq microdeletions with sperm count. Our findings are supported by previous reviews with large data and provide a reliable estimation of the prevalence of these anomalies in a Portuguese population. <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>67 was exclusively deleted in patients with spermatogenic impairment, showing a consistent genotype\u2013phenotype correlation and a significant prevalence.<\/jats:p><\/jats:sec>","DOI":"10.1111\/andr.12686","type":"journal-article","created":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T12:01:01Z","timestamp":1564401661000},"page":"307-314","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and molecular characterization of Y microdeletions and X\u2010linked <scp>CNV<\/scp>67 implications in male fertility: a 20\u2010year experience"],"prefix":"10.1111","volume":"8","author":[{"given":"A.","family":"Pinho","sequence":"first","affiliation":[{"name":"Genetic Unit Department of 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