Semen quality in men with Y chromosome aberrations
Summary Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes. The aim of this study was to evaluate genotype–phenotype correlations in a sample of infertile men with various types of Y chr...
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| Veröffentlicht in: | International journal of andrology 2011-10, Vol.34 (5pt1), p.453-460 |
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| container_title | International journal of andrology |
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| creator | Antonelli, A. Marcucci, L. Elli, R. Tanzi, N. Paoli, D. Radicioni, A. Lombardo, F. Lenzi, A. Gandini, L. |
| description | Summary
Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes. The aim of this study was to evaluate genotype–phenotype correlations in a sample of infertile men with various types of Y chromosome abnormalities. In particular, we examined the effect of (i) balanced structural aberrations such as translocations between sex chromosomes and autosomes; (ii) unbalanced structural aberrations such as deletions or isodicentrics, both [idic(Yp)] and [idic(Yq)]. We studied 13 subjects bearing Y chromosome aberrations. Each patient underwent seminal fluid examination, andrological inspection, hormone study, testicular ultrasound, conventional and molecular cytogenetic analysis and study of Y chromosome microdeletions. Comparison of genotype and sperm phenotype in infertile patients with various Y chromosome aberrations revealed the key role of meiotic pairing defects in arresting spermatogenesis, both in the presence and in the absence of azoospermic factor microdeletions and cell mosaicism. The failure of meiosis and, in consequence, spermatogenesis may be a result of the failure to inactivate the X chromosome in the meiotic prophase, which is necessary for normal male spermatogenesis to take place. |
| doi_str_mv | 10.1111/j.1365-2605.2010.01108.x |
| format | Article |
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Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes. The aim of this study was to evaluate genotype–phenotype correlations in a sample of infertile men with various types of Y chromosome abnormalities. In particular, we examined the effect of (i) balanced structural aberrations such as translocations between sex chromosomes and autosomes; (ii) unbalanced structural aberrations such as deletions or isodicentrics, both [idic(Yp)] and [idic(Yq)]. We studied 13 subjects bearing Y chromosome aberrations. Each patient underwent seminal fluid examination, andrological inspection, hormone study, testicular ultrasound, conventional and molecular cytogenetic analysis and study of Y chromosome microdeletions. Comparison of genotype and sperm phenotype in infertile patients with various Y chromosome aberrations revealed the key role of meiotic pairing defects in arresting spermatogenesis, both in the presence and in the absence of azoospermic factor microdeletions and cell mosaicism. The failure of meiosis and, in consequence, spermatogenesis may be a result of the failure to inactivate the X chromosome in the meiotic prophase, which is necessary for normal male spermatogenesis to take place.</description><identifier>ISSN: 0105-6263</identifier><identifier>EISSN: 1365-2605</identifier><identifier>DOI: 10.1111/j.1365-2605.2010.01108.x</identifier><identifier>PMID: 21039604</identifier><identifier>CODEN: IJANDP</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>AZF microdeletions ; Biological and medical sciences ; Birth control ; Chromosome Aberrations ; Chromosomes, Human, Y ; Fundamental and applied biological sciences. Psychology ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Male genital diseases ; male infertility ; Mammalian male genital system ; Medical sciences ; Polymerase Chain Reaction ; Semen ; semen parameters ; Sterility. Assisted procreation ; Vertebrates: reproduction ; Y chromosome aberrations</subject><ispartof>International journal of andrology, 2011-10, Vol.34 (5pt1), p.453-460</ispartof><rights>2010 The Authors. International Journal of Andrology © 2010 European Academy of Andrology</rights><rights>2015 INIST-CNRS</rights><rights>2010 The Authors. International Journal of Andrology © 2011 European Academy of Andrology.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4708-d6889cb3ff34e5740dd6de099ca736f9f1cda4bf6d60fe2be46dfd383cce022c3</citedby><cites>FETCH-LOGICAL-c4708-d6889cb3ff34e5740dd6de099ca736f9f1cda4bf6d60fe2be46dfd383cce022c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1365-2605.2010.01108.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2605.2010.01108.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,777,781,1412,1428,27905,27906,45555,45556,46390,46814</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24520093$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21039604$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Antonelli, A.</creatorcontrib><creatorcontrib>Marcucci, L.</creatorcontrib><creatorcontrib>Elli, R.</creatorcontrib><creatorcontrib>Tanzi, N.</creatorcontrib><creatorcontrib>Paoli, D.</creatorcontrib><creatorcontrib>Radicioni, A.</creatorcontrib><creatorcontrib>Lombardo, F.</creatorcontrib><creatorcontrib>Lenzi, A.</creatorcontrib><creatorcontrib>Gandini, L.</creatorcontrib><title>Semen quality in men with Y chromosome aberrations</title><title>International journal of andrology</title><addtitle>Int J Androl</addtitle><description>Summary
Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes. The aim of this study was to evaluate genotype–phenotype correlations in a sample of infertile men with various types of Y chromosome abnormalities. In particular, we examined the effect of (i) balanced structural aberrations such as translocations between sex chromosomes and autosomes; (ii) unbalanced structural aberrations such as deletions or isodicentrics, both [idic(Yp)] and [idic(Yq)]. We studied 13 subjects bearing Y chromosome aberrations. Each patient underwent seminal fluid examination, andrological inspection, hormone study, testicular ultrasound, conventional and molecular cytogenetic analysis and study of Y chromosome microdeletions. Comparison of genotype and sperm phenotype in infertile patients with various Y chromosome aberrations revealed the key role of meiotic pairing defects in arresting spermatogenesis, both in the presence and in the absence of azoospermic factor microdeletions and cell mosaicism. The failure of meiosis and, in consequence, spermatogenesis may be a result of the failure to inactivate the X chromosome in the meiotic prophase, which is necessary for normal male spermatogenesis to take place.</description><subject>AZF microdeletions</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Y</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Male genital diseases</subject><subject>male infertility</subject><subject>Mammalian male genital system</subject><subject>Medical sciences</subject><subject>Polymerase Chain Reaction</subject><subject>Semen</subject><subject>semen parameters</subject><subject>Sterility. Assisted procreation</subject><subject>Vertebrates: reproduction</subject><subject>Y chromosome aberrations</subject><issn>0105-6263</issn><issn>1365-2605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkEtPGzEURq2qqKTQv1DNpmo3E64f4_FsKgFqUh6CBaCqbCyPH8LpPMCeiOTf19OkYYfwxo977uerg1CGYYrTOlpMMeVFTjgUUwLpFTAGMV29Q5Nd4T2apEqRc8LpPvoY4wIAqKD4A9onGGjFgU0QubGt7bKnpWr8sM58l43XZz88ZL8z_RD6to99azNV2xDU4PsuHqI9p5poP233A3Q3-3F7-jO_vJ6fnR5f5pqVIHLDhah0TZ2jzBYlA2O4sVBVWpWUu8phbRSrHTccnCW1Zdw4kwbU2gIhmh6gr5vcx9A_LW0cZOujtk2jOtsvoxQVE5iWBU3kt1dJnCDGuWBlQsUG1aGPMVgnH4NvVVhLDHJ0KxdyVChHhXJ0K_-5lavU-nn7y7Jurdk1_peZgC9bQEWtGhdUp3184VhBAKpx3O8b7tk3dv3mAeTZ-fHVeEwB-SbAx8GudgEq_JG8TEbkr6u5nM9mJ_fifiYv6F-ShaM6</recordid><startdate>201110</startdate><enddate>201110</enddate><creator>Antonelli, A.</creator><creator>Marcucci, L.</creator><creator>Elli, R.</creator><creator>Tanzi, N.</creator><creator>Paoli, D.</creator><creator>Radicioni, A.</creator><creator>Lombardo, F.</creator><creator>Lenzi, A.</creator><creator>Gandini, L.</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201110</creationdate><title>Semen quality in men with Y chromosome aberrations</title><author>Antonelli, A. ; Marcucci, L. ; Elli, R. ; Tanzi, N. ; Paoli, D. ; Radicioni, A. ; Lombardo, F. ; Lenzi, A. ; Gandini, L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4708-d6889cb3ff34e5740dd6de099ca736f9f1cda4bf6d60fe2be46dfd383cce022c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>AZF microdeletions</topic><topic>Biological and medical sciences</topic><topic>Birth control</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Y</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>Male genital diseases</topic><topic>male infertility</topic><topic>Mammalian male genital system</topic><topic>Medical sciences</topic><topic>Polymerase Chain Reaction</topic><topic>Semen</topic><topic>semen parameters</topic><topic>Sterility. Assisted procreation</topic><topic>Vertebrates: reproduction</topic><topic>Y chromosome aberrations</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Antonelli, A.</creatorcontrib><creatorcontrib>Marcucci, L.</creatorcontrib><creatorcontrib>Elli, R.</creatorcontrib><creatorcontrib>Tanzi, N.</creatorcontrib><creatorcontrib>Paoli, D.</creatorcontrib><creatorcontrib>Radicioni, A.</creatorcontrib><creatorcontrib>Lombardo, F.</creatorcontrib><creatorcontrib>Lenzi, A.</creatorcontrib><creatorcontrib>Gandini, L.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of andrology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Antonelli, A.</au><au>Marcucci, L.</au><au>Elli, R.</au><au>Tanzi, N.</au><au>Paoli, D.</au><au>Radicioni, A.</au><au>Lombardo, F.</au><au>Lenzi, A.</au><au>Gandini, L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Semen quality in men with Y chromosome aberrations</atitle><jtitle>International journal of andrology</jtitle><addtitle>Int J Androl</addtitle><date>2011-10</date><risdate>2011</risdate><volume>34</volume><issue>5pt1</issue><spage>453</spage><epage>460</epage><pages>453-460</pages><issn>0105-6263</issn><eissn>1365-2605</eissn><coden>IJANDP</coden><abstract>Summary
Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes. The aim of this study was to evaluate genotype–phenotype correlations in a sample of infertile men with various types of Y chromosome abnormalities. In particular, we examined the effect of (i) balanced structural aberrations such as translocations between sex chromosomes and autosomes; (ii) unbalanced structural aberrations such as deletions or isodicentrics, both [idic(Yp)] and [idic(Yq)]. We studied 13 subjects bearing Y chromosome aberrations. Each patient underwent seminal fluid examination, andrological inspection, hormone study, testicular ultrasound, conventional and molecular cytogenetic analysis and study of Y chromosome microdeletions. Comparison of genotype and sperm phenotype in infertile patients with various Y chromosome aberrations revealed the key role of meiotic pairing defects in arresting spermatogenesis, both in the presence and in the absence of azoospermic factor microdeletions and cell mosaicism. The failure of meiosis and, in consequence, spermatogenesis may be a result of the failure to inactivate the X chromosome in the meiotic prophase, which is necessary for normal male spermatogenesis to take place.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>21039604</pmid><doi>10.1111/j.1365-2605.2010.01108.x</doi><tpages>8</tpages></addata></record> |
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| subjects | AZF microdeletions Biological and medical sciences Birth control Chromosome Aberrations Chromosomes, Human, Y Fundamental and applied biological sciences. Psychology Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Male Male genital diseases male infertility Mammalian male genital system Medical sciences Polymerase Chain Reaction Semen semen parameters Sterility. Assisted procreation Vertebrates: reproduction Y chromosome aberrations |
| title | Semen quality in men with Y chromosome aberrations |
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