An analysis of Xq deletions
We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation,...
Gespeichert in:
| Veröffentlicht in: | Human genetics 1996-03, Vol.97 (3), p.375-381 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 381 |
|---|---|
| container_issue | 3 |
| container_start_page | 375 |
| container_title | Human genetics |
| container_volume | 97 |
| creator | MARASCHIO, P TUPLER, R BARBIERATO, L DAINOTTI, E LARIZZA, D BERNARDI, F HOELLER, H GARAU, A TIEPOLO, L |
| description | We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion reveal that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal. |
| doi_str_mv | 10.1007/BF02185777 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_77996025</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>15644151</sourcerecordid><originalsourceid>FETCH-LOGICAL-c257t-ba7ba69cb79317f98c3a9843eb1d3ce6273864d32d20a553a0de0e6343d3aaf73</originalsourceid><addsrcrecordid>eNqF0EFLw0AQBeBFlFqrF68i5CAehOjsTnYne6zFqlDwouAtTDYbiKRJm20P_feNNNSjpzm8jwfzhLiW8CgB6Ol5DkqmmohOxFgmqGKpAE_FGDCB2JCkc3ERwg-A1FbpkRillBpIaSxupk3EDde7UIWoLaPvdVT42m-qtgmX4qzkOvir4U7E1_zlc_YWLz5e32fTReyUpk2cM-VsrMvJoqTSpg7Zpgn6XBbovFGEqUkKVIUC1hoZCg_eYIIFMpeEE3F_6F117XrrwyZbVsH5uubGt9uQEVlrQOl_odQmSaSWPXw4QNe1IXS-zFZdteRul0nIfifL_ibr8e3Qus2XvjjSYaM-vxtyDo7rsuPGVeHIlCWN_et7saxvzg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>15644151</pqid></control><display><type>article</type><title>An analysis of Xq deletions</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>MARASCHIO, P ; TUPLER, R ; BARBIERATO, L ; DAINOTTI, E ; LARIZZA, D ; BERNARDI, F ; HOELLER, H ; GARAU, A ; TIEPOLO, L</creator><creatorcontrib>MARASCHIO, P ; TUPLER, R ; BARBIERATO, L ; DAINOTTI, E ; LARIZZA, D ; BERNARDI, F ; HOELLER, H ; GARAU, A ; TIEPOLO, L</creatorcontrib><description>We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion reveal that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF02185777</identifier><identifier>PMID: 8786087</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Blotting, Southern ; Chromosome aberrations ; Chromosome Mapping ; Female ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Medical genetics ; Medical sciences ; Middle Aged ; X Chromosome</subject><ispartof>Human genetics, 1996-03, Vol.97 (3), p.375-381</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c257t-ba7ba69cb79317f98c3a9843eb1d3ce6273864d32d20a553a0de0e6343d3aaf73</citedby><cites>FETCH-LOGICAL-c257t-ba7ba69cb79317f98c3a9843eb1d3ce6273864d32d20a553a0de0e6343d3aaf73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2975379$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8786087$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>MARASCHIO, P</creatorcontrib><creatorcontrib>TUPLER, R</creatorcontrib><creatorcontrib>BARBIERATO, L</creatorcontrib><creatorcontrib>DAINOTTI, E</creatorcontrib><creatorcontrib>LARIZZA, D</creatorcontrib><creatorcontrib>BERNARDI, F</creatorcontrib><creatorcontrib>HOELLER, H</creatorcontrib><creatorcontrib>GARAU, A</creatorcontrib><creatorcontrib>TIEPOLO, L</creatorcontrib><title>An analysis of Xq deletions</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion reveal that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Blotting, Southern</subject><subject>Chromosome aberrations</subject><subject>Chromosome Mapping</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>X Chromosome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0EFLw0AQBeBFlFqrF68i5CAehOjsTnYne6zFqlDwouAtTDYbiKRJm20P_feNNNSjpzm8jwfzhLiW8CgB6Ol5DkqmmohOxFgmqGKpAE_FGDCB2JCkc3ERwg-A1FbpkRillBpIaSxupk3EDde7UIWoLaPvdVT42m-qtgmX4qzkOvir4U7E1_zlc_YWLz5e32fTReyUpk2cM-VsrMvJoqTSpg7Zpgn6XBbovFGEqUkKVIUC1hoZCg_eYIIFMpeEE3F_6F117XrrwyZbVsH5uubGt9uQEVlrQOl_odQmSaSWPXw4QNe1IXS-zFZdteRul0nIfifL_ibr8e3Qus2XvjjSYaM-vxtyDo7rsuPGVeHIlCWN_et7saxvzg</recordid><startdate>199603</startdate><enddate>199603</enddate><creator>MARASCHIO, P</creator><creator>TUPLER, R</creator><creator>BARBIERATO, L</creator><creator>DAINOTTI, E</creator><creator>LARIZZA, D</creator><creator>BERNARDI, F</creator><creator>HOELLER, H</creator><creator>GARAU, A</creator><creator>TIEPOLO, L</creator><general>Springer</general><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>199603</creationdate><title>An analysis of Xq deletions</title><author>MARASCHIO, P ; TUPLER, R ; BARBIERATO, L ; DAINOTTI, E ; LARIZZA, D ; BERNARDI, F ; HOELLER, H ; GARAU, A ; TIEPOLO, L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c257t-ba7ba69cb79317f98c3a9843eb1d3ce6273864d32d20a553a0de0e6343d3aaf73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Blotting, Southern</topic><topic>Chromosome aberrations</topic><topic>Chromosome Mapping</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>MARASCHIO, P</creatorcontrib><creatorcontrib>TUPLER, R</creatorcontrib><creatorcontrib>BARBIERATO, L</creatorcontrib><creatorcontrib>DAINOTTI, E</creatorcontrib><creatorcontrib>LARIZZA, D</creatorcontrib><creatorcontrib>BERNARDI, F</creatorcontrib><creatorcontrib>HOELLER, H</creatorcontrib><creatorcontrib>GARAU, A</creatorcontrib><creatorcontrib>TIEPOLO, L</creatorcontrib><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>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>MARASCHIO, P</au><au>TUPLER, R</au><au>BARBIERATO, L</au><au>DAINOTTI, E</au><au>LARIZZA, D</au><au>BERNARDI, F</au><au>HOELLER, H</au><au>GARAU, A</au><au>TIEPOLO, L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An analysis of Xq deletions</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1996-03</date><risdate>1996</risdate><volume>97</volume><issue>3</issue><spage>375</spage><epage>381</epage><pages>375-381</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion reveal that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>8786087</pmid><doi>10.1007/BF02185777</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1996-03, Vol.97 (3), p.375-381 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_77996025 |
| source | MEDLINE; SpringerLink Journals |
| subjects | Adolescent Adult Biological and medical sciences Blotting, Southern Chromosome aberrations Chromosome Mapping Female Gene Deletion Humans In Situ Hybridization, Fluorescence Karyotyping Medical genetics Medical sciences Middle Aged X Chromosome |
| title | An analysis of Xq deletions |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-18T04%3A25%3A12IST&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=An%20analysis%20of%20Xq%20deletions&rft.jtitle=Human%20genetics&rft.au=MARASCHIO,%20P&rft.date=1996-03&rft.volume=97&rft.issue=3&rft.spage=375&rft.epage=381&rft.pages=375-381&rft.issn=0340-6717&rft.eissn=1432-1203&rft.coden=HUGEDQ&rft_id=info:doi/10.1007/BF02185777&rft_dat=%3Cproquest_cross%3E15644151%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=15644151&rft_id=info:pmid/8786087&rfr_iscdi=true |