Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q
A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation with t...
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| Veröffentlicht in: | Journal of medical genetics 1992-10, Vol.29 (10), p.704-708 |
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| creator | Brandt, C A Hertz, J M Petersen, M B Vogel, F Noer, H Mikkelsen, M |
| description | A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation with the probe L1.26 confirmed the derivation from chromosome 13 and DNA polymorphism analysis showed maternal origin of the ring chromosome. Our results, together with a review of previous reports of cases with ring chromosome 13 with identified breakpoints, could neither support the theory of distinct clinical syndromes based on different breakpoints on 13q nor correlate the severity of symptoms with instability of the ring. |
| doi_str_mv | 10.1136/jmg.29.10.704 |
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The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation with the probe L1.26 confirmed the derivation from chromosome 13 and DNA polymorphism analysis showed maternal origin of the ring chromosome. Our results, together with a review of previous reports of cases with ring chromosome 13 with identified breakpoints, could neither support the theory of distinct clinical syndromes based on different breakpoints on 13q nor correlate the severity of symptoms with instability of the ring.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.29.10.704</identifier><identifier>PMID: 1433229</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - genetics ; Anencephaly - genetics ; Biological and medical sciences ; breakpoints ; case reports ; chromosome 13 ; Chromosome aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 13 ; Fetal Death - genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; man ; Medical genetics ; Medical sciences ; Ring Chromosomes</subject><ispartof>Journal of medical genetics, 1992-10, Vol.29 (10), p.704-708</ispartof><rights>1992 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Oct 1992</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b607t-b44726a8d711f7a2e70adadc1ed7d8a47c8b439db194e93b28b21d8ba5d03d213</citedby><cites>FETCH-LOGICAL-b607t-b44726a8d711f7a2e70adadc1ed7d8a47c8b439db194e93b28b21d8ba5d03d213</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016127/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016127/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27922,27923,53789,53791</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5610395$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1433229$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brandt, C A</creatorcontrib><creatorcontrib>Hertz, J M</creatorcontrib><creatorcontrib>Petersen, M B</creatorcontrib><creatorcontrib>Vogel, F</creatorcontrib><creatorcontrib>Noer, H</creatorcontrib><creatorcontrib>Mikkelsen, M</creatorcontrib><title>Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation with the probe L1.26 confirmed the derivation from chromosome 13 and DNA polymorphism analysis showed maternal origin of the ring chromosome. Our results, together with a review of previous reports of cases with ring chromosome 13 with identified breakpoints, could neither support the theory of distinct clinical syndromes based on different breakpoints on 13q nor correlate the severity of symptoms with instability of the ring.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Anencephaly - genetics</subject><subject>Biological and medical sciences</subject><subject>breakpoints</subject><subject>case reports</subject><subject>chromosome 13</subject><subject>Chromosome aberrations</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Fetal Death - genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Ring Chromosomes</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUFrFDEYhoModa0ePQoDivQya74kk0x6EGSxKl1UpBbxEpJJZju7M8k2mRX775tll6310lP4eB7efMmL0EvAUwDK3y2HxZTIaR4FZo_QBBivS04Ye4wmGBNSkkrSp-hZSkuMgQrgR-gIGKWEyAm6-NH5RdFcxTCEFAZXAD0tet2sitAWtktj55uxSDfeZsOlwujkbBF8Zm3rovNjYaLTq3Xo_Ji2AOj1c_Sk1X1yL_bnMfp59vFi9rmcf_v0ZfZhXhqOxVgaxgThurYCoBWaOIG11bYBZ4WtNRNNbRiV1oBkTlJDakPA1kZXFlNLgB6j97vc9cYMzjZ5m6h7tY7doOONCrpT94nvrtQi_FGAgQMROeDtPiCG641Loxq61Li-196FTVKCEkk5oQ-KwClhXOIsvv5PXIZN9PkXFAiBq5pw2MaVO6uJIaXo2sPOgNW2VZVbVURux9xq9l_9-9A7e1dj5m_2XKdG923UvunSQas4YCqru2tzr-7vAeu4UlxQUamvlzMFl-fz32f1L_U9-yc73wzLBza8BdUfxi8</recordid><startdate>19921001</startdate><enddate>19921001</enddate><creator>Brandt, C A</creator><creator>Hertz, J M</creator><creator>Petersen, M B</creator><creator>Vogel, F</creator><creator>Noer, H</creator><creator>Mikkelsen, M</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</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>K9.</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19921001</creationdate><title>Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q</title><author>Brandt, C A ; Hertz, J M ; Petersen, M B ; Vogel, F ; Noer, H ; Mikkelsen, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b607t-b44726a8d711f7a2e70adadc1ed7d8a47c8b439db194e93b28b21d8ba5d03d213</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Anencephaly - genetics</topic><topic>Biological and medical sciences</topic><topic>breakpoints</topic><topic>case reports</topic><topic>chromosome 13</topic><topic>Chromosome aberrations</topic><topic>Chromosome Banding</topic><topic>Chromosomes, Human, Pair 13</topic><topic>Fetal Death - genetics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Ring Chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brandt, C A</creatorcontrib><creatorcontrib>Hertz, J M</creatorcontrib><creatorcontrib>Petersen, M B</creatorcontrib><creatorcontrib>Vogel, F</creatorcontrib><creatorcontrib>Noer, H</creatorcontrib><creatorcontrib>Mikkelsen, M</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>ProQuest Health & Medical Complete (Alumni)</collection><collection>Human Genome Abstracts</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brandt, C A</au><au>Hertz, J M</au><au>Petersen, M B</au><au>Vogel, F</au><au>Noer, H</au><au>Mikkelsen, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1992-10-01</date><risdate>1992</risdate><volume>29</volume><issue>10</issue><spage>704</spage><epage>708</epage><pages>704-708</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation with the probe L1.26 confirmed the derivation from chromosome 13 and DNA polymorphism analysis showed maternal origin of the ring chromosome. Our results, together with a review of previous reports of cases with ring chromosome 13 with identified breakpoints, could neither support the theory of distinct clinical syndromes based on different breakpoints on 13q nor correlate the severity of symptoms with instability of the ring.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>1433229</pmid><doi>10.1136/jmg.29.10.704</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Anencephaly - genetics Biological and medical sciences breakpoints case reports chromosome 13 Chromosome aberrations Chromosome Banding Chromosomes, Human, Pair 13 Fetal Death - genetics Humans In Situ Hybridization, Fluorescence Karyotyping Male man Medical genetics Medical sciences Ring Chromosomes |
| title | Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q |
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