Polyploidy in large-headed sperm: FISH study of three cases
BACKGROUND: Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS: The cytogenetic content of large-headed sperm was assessed by dual an...
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| Veröffentlicht in: | Human reproduction (Oxford) 2002-05, Vol.17 (5), p.1292-1298 |
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| creator | Devillard, F. Metzler-Guillemain, C. Pelletier, R. DeRobertis, C. Bergues, U. Hennebicq, S. Guichaoua, M. Sèle, B. Rousseaux, S. |
| description | BACKGROUND: Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS: The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morphological abnormality. RESULTS: In all patients nearly all sperm contained at least one copy of each sex chromosome, and in more than half of them at least two copies of either chromosome 1 or 18 were identified. In some sperm a tetraploidy was found. CONCLUSIONS: These observations suggested that both meiotic I and II divisions were affected by incomplete partition of homologous chromosomes during meiosis I and of sister chromatids during meiosis II associated with a failure of nuclear cleavage. Furthermore, they provide evidence for a clear relationship between a specific morphological abnormality of the sperm and their abnormal cytogenetic content. The treatment of infertility using ICSI would probably be unsuccessful and have a high genetic risk in these cases. |
| doi_str_mv | 10.1093/humrep/17.5.1292 |
| format | Article |
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Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS: The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morphological abnormality. RESULTS: In all patients nearly all sperm contained at least one copy of each sex chromosome, and in more than half of them at least two copies of either chromosome 1 or 18 were identified. In some sperm a tetraploidy was found. CONCLUSIONS: These observations suggested that both meiotic I and II divisions were affected by incomplete partition of homologous chromosomes during meiosis I and of sister chromatids during meiosis II associated with a failure of nuclear cleavage. Furthermore, they provide evidence for a clear relationship between a specific morphological abnormality of the sperm and their abnormal cytogenetic content. The treatment of infertility using ICSI would probably be unsuccessful and have a high genetic risk in these cases.</description><identifier>ISSN: 0268-1161</identifier><identifier>ISSN: 1460-2350</identifier><identifier>EISSN: 1460-2350</identifier><identifier>DOI: 10.1093/humrep/17.5.1292</identifier><identifier>PMID: 11980754</identifier><identifier>CODEN: HUREEE</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adult ; aneuploidy ; Biological and medical sciences ; Cell Nucleus - physiology ; Cell Nucleus - ultrastructure ; Chromosome Aberrations ; Chromosomes, Human, Pair 1 - ultrastructure ; Chromosomes, Human, Pair 18 - ultrastructure ; Congenital Abnormalities - genetics ; Cytogenetic Analysis ; FISH ; Gene Dosage ; Gynecology. Andrology. Obstetrics ; Humans ; ICSI ; In Situ Hybridization, Fluorescence ; Male ; Male genital diseases ; Medical sciences ; Middle Aged ; morphological abnormalities ; Non tumoral diseases ; Ploidies ; Sex Chromosomes - ultrastructure ; sperm chromosomes ; Sperm Head - ultrastructure ; Spermatozoa - abnormalities ; Spermatozoa - physiology</subject><ispartof>Human reproduction (Oxford), 2002-05, Vol.17 (5), p.1292-1298</ispartof><rights>European Society of Human Reproduction and Embryology 2002</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c507t-e47fdbebf0b7e0a6e61f813294347212ff4f9fd2d9ea3e15f62a19d7595752743</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,1578,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14187993$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11980754$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Devillard, F.</creatorcontrib><creatorcontrib>Metzler-Guillemain, C.</creatorcontrib><creatorcontrib>Pelletier, R.</creatorcontrib><creatorcontrib>DeRobertis, C.</creatorcontrib><creatorcontrib>Bergues, U.</creatorcontrib><creatorcontrib>Hennebicq, S.</creatorcontrib><creatorcontrib>Guichaoua, M.</creatorcontrib><creatorcontrib>Sèle, B.</creatorcontrib><creatorcontrib>Rousseaux, S.</creatorcontrib><title>Polyploidy in large-headed sperm: FISH study of three cases</title><title>Human reproduction (Oxford)</title><addtitle>Hum. Reprod</addtitle><addtitle>Hum. Reprod</addtitle><description>BACKGROUND: Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS: The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morphological abnormality. RESULTS: In all patients nearly all sperm contained at least one copy of each sex chromosome, and in more than half of them at least two copies of either chromosome 1 or 18 were identified. In some sperm a tetraploidy was found. CONCLUSIONS: These observations suggested that both meiotic I and II divisions were affected by incomplete partition of homologous chromosomes during meiosis I and of sister chromatids during meiosis II associated with a failure of nuclear cleavage. Furthermore, they provide evidence for a clear relationship between a specific morphological abnormality of the sperm and their abnormal cytogenetic content. The treatment of infertility using ICSI would probably be unsuccessful and have a high genetic risk in these cases.</description><subject>Adult</subject><subject>aneuploidy</subject><subject>Biological and medical sciences</subject><subject>Cell Nucleus - physiology</subject><subject>Cell Nucleus - ultrastructure</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Pair 1 - ultrastructure</subject><subject>Chromosomes, Human, Pair 18 - ultrastructure</subject><subject>Congenital Abnormalities - genetics</subject><subject>Cytogenetic Analysis</subject><subject>FISH</subject><subject>Gene Dosage</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>ICSI</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Male genital diseases</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>morphological abnormalities</subject><subject>Non tumoral diseases</subject><subject>Ploidies</subject><subject>Sex Chromosomes - ultrastructure</subject><subject>sperm chromosomes</subject><subject>Sperm Head - ultrastructure</subject><subject>Spermatozoa - abnormalities</subject><subject>Spermatozoa - physiology</subject><issn>0268-1161</issn><issn>1460-2350</issn><issn>1460-2350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0E1r20AQBuClpNRO2ntOQZf0EuTs7Kc2ORWTxAZDC21J6WVZS7OxEslSdiWo_31kZOJrTzOH552Bl5BzoDOghl9v-jpgew16JmfADPtApiAUTRmX9IRMKVNZCqBgQk5jfKZ0WDP1iUwATEa1FFNy-6Opdm3VlMUuKbdJ5cITpht0BRZJbDHUN8n98uciiV0_iMYn3SYgJrmLGD-Tj95VEb8c5hn5fX_3a75IV98flvNvqzSXVHcpCu2LNa49XWukTqECnwFnRnChGTDvhTe-YIVBxxGkV8yBKbQ0UkumBT8jX8e7bWhee4ydrcuYY1W5LTZ9tBoU5xllA6QjzEMTY0Bv21DWLuwsULsvzI6FWdBW2n1hQ-TicLtf11gcA4eGBnB5AC7mrvLBbfMyHp2ATBvDB3c1uqZv_-dtOuoydvjv3bvwYpXmWtrFn792pR_FI5XScv4GeGOQwQ</recordid><startdate>20020501</startdate><enddate>20020501</enddate><creator>Devillard, F.</creator><creator>Metzler-Guillemain, C.</creator><creator>Pelletier, R.</creator><creator>DeRobertis, C.</creator><creator>Bergues, U.</creator><creator>Hennebicq, S.</creator><creator>Guichaoua, M.</creator><creator>Sèle, B.</creator><creator>Rousseaux, S.</creator><general>Oxford University Press</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>7X8</scope></search><sort><creationdate>20020501</creationdate><title>Polyploidy in large-headed sperm: FISH study of three cases</title><author>Devillard, F. ; Metzler-Guillemain, C. ; Pelletier, R. ; DeRobertis, C. ; Bergues, U. ; Hennebicq, S. ; Guichaoua, M. ; Sèle, B. ; Rousseaux, S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c507t-e47fdbebf0b7e0a6e61f813294347212ff4f9fd2d9ea3e15f62a19d7595752743</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>aneuploidy</topic><topic>Biological and medical sciences</topic><topic>Cell Nucleus - physiology</topic><topic>Cell Nucleus - ultrastructure</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Pair 1 - ultrastructure</topic><topic>Chromosomes, Human, Pair 18 - ultrastructure</topic><topic>Congenital Abnormalities - genetics</topic><topic>Cytogenetic Analysis</topic><topic>FISH</topic><topic>Gene Dosage</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>ICSI</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>Male genital diseases</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>morphological abnormalities</topic><topic>Non tumoral diseases</topic><topic>Ploidies</topic><topic>Sex Chromosomes - ultrastructure</topic><topic>sperm chromosomes</topic><topic>Sperm Head - ultrastructure</topic><topic>Spermatozoa - abnormalities</topic><topic>Spermatozoa - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Devillard, F.</creatorcontrib><creatorcontrib>Metzler-Guillemain, C.</creatorcontrib><creatorcontrib>Pelletier, R.</creatorcontrib><creatorcontrib>DeRobertis, C.</creatorcontrib><creatorcontrib>Bergues, U.</creatorcontrib><creatorcontrib>Hennebicq, S.</creatorcontrib><creatorcontrib>Guichaoua, M.</creatorcontrib><creatorcontrib>Sèle, B.</creatorcontrib><creatorcontrib>Rousseaux, S.</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>MEDLINE - Academic</collection><jtitle>Human reproduction (Oxford)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Devillard, F.</au><au>Metzler-Guillemain, C.</au><au>Pelletier, R.</au><au>DeRobertis, C.</au><au>Bergues, U.</au><au>Hennebicq, S.</au><au>Guichaoua, M.</au><au>Sèle, B.</au><au>Rousseaux, S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polyploidy in large-headed sperm: FISH study of three cases</atitle><jtitle>Human reproduction (Oxford)</jtitle><stitle>Hum. Reprod</stitle><addtitle>Hum. Reprod</addtitle><date>2002-05-01</date><risdate>2002</risdate><volume>17</volume><issue>5</issue><spage>1292</spage><epage>1298</epage><pages>1292-1298</pages><issn>0268-1161</issn><issn>1460-2350</issn><eissn>1460-2350</eissn><coden>HUREEE</coden><abstract>BACKGROUND: Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS: The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morphological abnormality. RESULTS: In all patients nearly all sperm contained at least one copy of each sex chromosome, and in more than half of them at least two copies of either chromosome 1 or 18 were identified. In some sperm a tetraploidy was found. CONCLUSIONS: These observations suggested that both meiotic I and II divisions were affected by incomplete partition of homologous chromosomes during meiosis I and of sister chromatids during meiosis II associated with a failure of nuclear cleavage. Furthermore, they provide evidence for a clear relationship between a specific morphological abnormality of the sperm and their abnormal cytogenetic content. The treatment of infertility using ICSI would probably be unsuccessful and have a high genetic risk in these cases.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>11980754</pmid><doi>10.1093/humrep/17.5.1292</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Adult aneuploidy Biological and medical sciences Cell Nucleus - physiology Cell Nucleus - ultrastructure Chromosome Aberrations Chromosomes, Human, Pair 1 - ultrastructure Chromosomes, Human, Pair 18 - ultrastructure Congenital Abnormalities - genetics Cytogenetic Analysis FISH Gene Dosage Gynecology. Andrology. Obstetrics Humans ICSI In Situ Hybridization, Fluorescence Male Male genital diseases Medical sciences Middle Aged morphological abnormalities Non tumoral diseases Ploidies Sex Chromosomes - ultrastructure sperm chromosomes Sperm Head - ultrastructure Spermatozoa - abnormalities Spermatozoa - physiology |
| title | Polyploidy in large-headed sperm: FISH study of three cases |
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