Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction
We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition,...
Gespeichert in:
| Veröffentlicht in: | Clinical genetics 2000-04, Vol.57 (4), p.291-295 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 295 |
|---|---|
| container_issue | 4 |
| container_start_page | 291 |
| container_title | Clinical genetics |
| container_volume | 57 |
| creator | Jakubowski, L Jeziorowska, A Constantinou, M Kałużewski, B |
| description | We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq have been mapped using Southern blotting and polymerase chain reaction analysis. This paper provides additional information on the analysis of Y chromosome aberrations, and suggests that the stability of the Y chromosome in these instances is related to the site of the break point on Yq. |
| doi_str_mv | 10.1034/j.1399-0004.2000.570408.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_71170683</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>71170683</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4378-ce8bb5abe9f0297187115385f8b02b9968097aadad66ebd825554802c9fa0b803</originalsourceid><addsrcrecordid>eNqNkV2P1CAUhonRuOPqXzCYGO9aoZQW7jSTddxk_Ioa4xUBSmcZaZkFmp3--2XSyeqlN5xDeM4DeQHgFUYlRqR-uy8x4bxACNVlldeStqhGrDw-AquHk8dglQsvOG7IBXgW4z5vSUv5U3CBEatpHlqB3SfvjJ6cDFCO0s3RRuh7-Bvqm-AHH_1goPPjDsowwJjCpNMUpIN2jEkq62yacw8PMlkzpgjvbLqBOz_KLkPdHPtp1Mn68Tl40ksXzYtzvQQ_P1z9WH8stl821-v320LXpGWFNkwpKpXhPap4i1mLMSWM9kyhSnHeMMRbmeVd0xjVsYpSWjNUad5LpBgil-DN4j0EfzuZmMRgozbOydH4KYrsa1HDSAb5AurgYwymF4dgBxlmgZE4pSz24pSlOGUpTimLJWVxzLMvz5dMajDdP5NLrBl4fQZk1NL1QY7axr8cobhqcMbeLdiddWb-_weI9eZq6bOiWBQ2JnN8UMjwRzRt_m3x6_NGbKv2O92Qb-IruQcdBakW</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>71170683</pqid></control><display><type>article</type><title>Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Jakubowski, L ; Jeziorowska, A ; Constantinou, M ; Kałużewski, B</creator><creatorcontrib>Jakubowski, L ; Jeziorowska, A ; Constantinou, M ; Kałużewski, B</creatorcontrib><description>We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq have been mapped using Southern blotting and polymerase chain reaction analysis. This paper provides additional information on the analysis of Y chromosome aberrations, and suggests that the stability of the Y chromosome in these instances is related to the site of the break point on Yq.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1034/j.1399-0004.2000.570408.x</identifier><identifier>PMID: 10845570</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Copenhagen: Munksgaard International Publishers</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Blotting, Southern ; Centromere ; Child ; Child, Preschool ; Chromosome Breakage - genetics ; Chromosome Mapping ; DNA - analysis ; DNA - blood ; Female ; fluorescence in situ hybridization (FISH) ; genitourinary malformations ; Gonadal Disorders - genetics ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance ; Medical sciences ; PCR-Y chromosome structural aberrations ; Polymerase Chain Reaction ; Sex Chromosome Aberrations ; Y Chromosome - genetics ; Y chromosome instability</subject><ispartof>Clinical genetics, 2000-04, Vol.57 (4), p.291-295</ispartof><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4378-ce8bb5abe9f0297187115385f8b02b9968097aadad66ebd825554802c9fa0b803</citedby><cites>FETCH-LOGICAL-c4378-ce8bb5abe9f0297187115385f8b02b9968097aadad66ebd825554802c9fa0b803</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1034%2Fj.1399-0004.2000.570408.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1034%2Fj.1399-0004.2000.570408.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1351261$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10845570$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jakubowski, L</creatorcontrib><creatorcontrib>Jeziorowska, A</creatorcontrib><creatorcontrib>Constantinou, M</creatorcontrib><creatorcontrib>Kałużewski, B</creatorcontrib><title>Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction</title><title>Clinical genetics</title><addtitle>Clinical Genetics</addtitle><description>We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq have been mapped using Southern blotting and polymerase chain reaction analysis. This paper provides additional information on the analysis of Y chromosome aberrations, and suggests that the stability of the Y chromosome in these instances is related to the site of the break point on Yq.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Blotting, Southern</subject><subject>Centromere</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Breakage - genetics</subject><subject>Chromosome Mapping</subject><subject>DNA - analysis</subject><subject>DNA - blood</subject><subject>Female</subject><subject>fluorescence in situ hybridization (FISH)</subject><subject>genitourinary malformations</subject><subject>Gonadal Disorders - genetics</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>Medical sciences</subject><subject>PCR-Y chromosome structural aberrations</subject><subject>Polymerase Chain Reaction</subject><subject>Sex Chromosome Aberrations</subject><subject>Y Chromosome - genetics</subject><subject>Y chromosome instability</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkV2P1CAUhonRuOPqXzCYGO9aoZQW7jSTddxk_Ioa4xUBSmcZaZkFmp3--2XSyeqlN5xDeM4DeQHgFUYlRqR-uy8x4bxACNVlldeStqhGrDw-AquHk8dglQsvOG7IBXgW4z5vSUv5U3CBEatpHlqB3SfvjJ6cDFCO0s3RRuh7-Bvqm-AHH_1goPPjDsowwJjCpNMUpIN2jEkq62yacw8PMlkzpgjvbLqBOz_KLkPdHPtp1Mn68Tl40ksXzYtzvQQ_P1z9WH8stl821-v320LXpGWFNkwpKpXhPap4i1mLMSWM9kyhSnHeMMRbmeVd0xjVsYpSWjNUad5LpBgil-DN4j0EfzuZmMRgozbOydH4KYrsa1HDSAb5AurgYwymF4dgBxlmgZE4pSz24pSlOGUpTimLJWVxzLMvz5dMajDdP5NLrBl4fQZk1NL1QY7axr8cobhqcMbeLdiddWb-_weI9eZq6bOiWBQ2JnN8UMjwRzRt_m3x6_NGbKv2O92Qb-IruQcdBakW</recordid><startdate>200004</startdate><enddate>200004</enddate><creator>Jakubowski, L</creator><creator>Jeziorowska, A</creator><creator>Constantinou, M</creator><creator>Kałużewski, B</creator><general>Munksgaard International Publishers</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>7X8</scope></search><sort><creationdate>200004</creationdate><title>Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction</title><author>Jakubowski, L ; Jeziorowska, A ; Constantinou, M ; Kałużewski, B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4378-ce8bb5abe9f0297187115385f8b02b9968097aadad66ebd825554802c9fa0b803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Blotting, Southern</topic><topic>Centromere</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Breakage - genetics</topic><topic>Chromosome Mapping</topic><topic>DNA - analysis</topic><topic>DNA - blood</topic><topic>Female</topic><topic>fluorescence in situ hybridization (FISH)</topic><topic>genitourinary malformations</topic><topic>Gonadal Disorders - genetics</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</topic><topic>Medical sciences</topic><topic>PCR-Y chromosome structural aberrations</topic><topic>Polymerase Chain Reaction</topic><topic>Sex Chromosome Aberrations</topic><topic>Y Chromosome - genetics</topic><topic>Y chromosome instability</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jakubowski, L</creatorcontrib><creatorcontrib>Jeziorowska, A</creatorcontrib><creatorcontrib>Constantinou, M</creatorcontrib><creatorcontrib>Kałużewski, B</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>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jakubowski, L</au><au>Jeziorowska, A</au><au>Constantinou, M</au><au>Kałużewski, B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clinical Genetics</addtitle><date>2000-04</date><risdate>2000</risdate><volume>57</volume><issue>4</issue><spage>291</spage><epage>295</epage><pages>291-295</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq have been mapped using Southern blotting and polymerase chain reaction analysis. This paper provides additional information on the analysis of Y chromosome aberrations, and suggests that the stability of the Y chromosome in these instances is related to the site of the break point on Yq.</abstract><cop>Copenhagen</cop><pub>Munksgaard International Publishers</pub><pmid>10845570</pmid><doi>10.1034/j.1399-0004.2000.570408.x</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0009-9163 |
| ispartof | Clinical genetics, 2000-04, Vol.57 (4), p.291-295 |
| issn | 0009-9163 1399-0004 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_71170683 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent Adult Biological and medical sciences Blotting, Southern Centromere Child Child, Preschool Chromosome Breakage - genetics Chromosome Mapping DNA - analysis DNA - blood Female fluorescence in situ hybridization (FISH) genitourinary malformations Gonadal Disorders - genetics Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Karyotyping Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences PCR-Y chromosome structural aberrations Polymerase Chain Reaction Sex Chromosome Aberrations Y Chromosome - genetics Y chromosome instability |
| title | Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-28T12%3A45%3A56IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Molecular%20analysis%20of%20Y%20chromosome%20long%20arm%20structural%20instability%20in%20patients%20with%20gonadal%20dysfunction&rft.jtitle=Clinical%20genetics&rft.au=Jakubowski,%20L&rft.date=2000-04&rft.volume=57&rft.issue=4&rft.spage=291&rft.epage=295&rft.pages=291-295&rft.issn=0009-9163&rft.eissn=1399-0004&rft.coden=CLGNAY&rft_id=info:doi/10.1034/j.1399-0004.2000.570408.x&rft_dat=%3Cproquest_cross%3E71170683%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=71170683&rft_id=info:pmid/10845570&rfr_iscdi=true |