Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation
Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. Th...
Gespeichert in:
| Veröffentlicht in: | Human genetics 1979-04, Vol.48 (2), p.157-167 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 167 |
|---|---|
| container_issue | 2 |
| container_start_page | 157 |
| container_title | Human genetics |
| container_volume | 48 |
| creator | Maraschio, P Danesino, C Garau, A Saputo, V Vigi, V Volpato, S |
| description | Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23 leads to p25; this had previously been localised to segment p23 leads to pter. |
| doi_str_mv | 10.1007/BF00286899 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_74595115</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>74595115</sourcerecordid><originalsourceid>FETCH-LOGICAL-c196t-4bea9be61554cd1e5ba2c66683ad1640e1772abd3f2fc67025dda3a6e6b86b273</originalsourceid><addsrcrecordid>eNpFkDtPwzAURi3EqxQWZgZPDIhQv52MpaKAVKlLmaMb-4YGJXGxUyT-PUWtYPqG7-gMh5Brzh44Y3byOGdM5CYviiMy4kqKjAsmj8mIScUyY7k9JxcpfTDGdSH0GTlV2nLFRmS5WkdE6iBhoqGmsenfqVvH0IUUOqTinoYeqcfYfKGn9e6gQDcwYOyhpWJi6BChT21wMDShvyQnNbQJrw47Jm_zp9XsJVssn19n00XmeGGGTFUIRYWGa62c56grEM4Yk0vw3CiG3FoBlZe1qJ2xTGjvQYJBU-WmElaOye3eu4nhc4tpKLsmOWxb6DFsU2mVLjTnegfe7UEXQ0oR63ITmw7id8lZ-Ruv_I-3g28O1m3Vof9D97XkD0n1aEo</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>74595115</pqid></control><display><type>article</type><title>Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation</title><source>MEDLINE</source><source>SpringerNature Journals</source><creator>Maraschio, P ; Danesino, C ; Garau, A ; Saputo, V ; Vigi, V ; Volpato, S</creator><creatorcontrib>Maraschio, P ; Danesino, C ; Garau, A ; Saputo, V ; Vigi, V ; Volpato, S</creatorcontrib><description>Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23 leads to p25; this had previously been localised to segment p23 leads to pter.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00286899</identifier><identifier>PMID: 457140</identifier><language>eng</language><publisher>Germany</publisher><subject>Abnormalities, Multiple - genetics ; Chromosome Aberrations ; Chromosome Mapping ; Chromosomes, Human, 1-3 ; Chromosomes, Human, 6-12 and X ; Endopeptidases - genetics ; Female ; Foot Deformities, Congenital ; Humans ; Infant ; Infant, Newborn ; Malate Dehydrogenase - genetics ; Male ; Translocation, Genetic</subject><ispartof>Human genetics, 1979-04, Vol.48 (2), p.157-167</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c196t-4bea9be61554cd1e5ba2c66683ad1640e1772abd3f2fc67025dda3a6e6b86b273</citedby><cites>FETCH-LOGICAL-c196t-4bea9be61554cd1e5ba2c66683ad1640e1772abd3f2fc67025dda3a6e6b86b273</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/457140$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Maraschio, P</creatorcontrib><creatorcontrib>Danesino, C</creatorcontrib><creatorcontrib>Garau, A</creatorcontrib><creatorcontrib>Saputo, V</creatorcontrib><creatorcontrib>Vigi, V</creatorcontrib><creatorcontrib>Volpato, S</creatorcontrib><title>Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23 leads to p25; this had previously been localised to segment p23 leads to pter.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, 1-3</subject><subject>Chromosomes, Human, 6-12 and X</subject><subject>Endopeptidases - genetics</subject><subject>Female</subject><subject>Foot Deformities, Congenital</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Malate Dehydrogenase - genetics</subject><subject>Male</subject><subject>Translocation, Genetic</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1979</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkDtPwzAURi3EqxQWZgZPDIhQv52MpaKAVKlLmaMb-4YGJXGxUyT-PUWtYPqG7-gMh5Brzh44Y3byOGdM5CYviiMy4kqKjAsmj8mIScUyY7k9JxcpfTDGdSH0GTlV2nLFRmS5WkdE6iBhoqGmsenfqVvH0IUUOqTinoYeqcfYfKGn9e6gQDcwYOyhpWJi6BChT21wMDShvyQnNbQJrw47Jm_zp9XsJVssn19n00XmeGGGTFUIRYWGa62c56grEM4Yk0vw3CiG3FoBlZe1qJ2xTGjvQYJBU-WmElaOye3eu4nhc4tpKLsmOWxb6DFsU2mVLjTnegfe7UEXQ0oR63ITmw7id8lZ-Ruv_I-3g28O1m3Vof9D97XkD0n1aEo</recordid><startdate>19790427</startdate><enddate>19790427</enddate><creator>Maraschio, P</creator><creator>Danesino, C</creator><creator>Garau, A</creator><creator>Saputo, V</creator><creator>Vigi, V</creator><creator>Volpato, S</creator><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>19790427</creationdate><title>Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation</title><author>Maraschio, P ; Danesino, C ; Garau, A ; Saputo, V ; Vigi, V ; Volpato, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c196t-4bea9be61554cd1e5ba2c66683ad1640e1772abd3f2fc67025dda3a6e6b86b273</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1979</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, 1-3</topic><topic>Chromosomes, Human, 6-12 and X</topic><topic>Endopeptidases - genetics</topic><topic>Female</topic><topic>Foot Deformities, Congenital</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Malate Dehydrogenase - genetics</topic><topic>Male</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Maraschio, P</creatorcontrib><creatorcontrib>Danesino, C</creatorcontrib><creatorcontrib>Garau, A</creatorcontrib><creatorcontrib>Saputo, V</creatorcontrib><creatorcontrib>Vigi, V</creatorcontrib><creatorcontrib>Volpato, S</creatorcontrib><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 genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Maraschio, P</au><au>Danesino, C</au><au>Garau, A</au><au>Saputo, V</au><au>Vigi, V</au><au>Volpato, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1979-04-27</date><risdate>1979</risdate><volume>48</volume><issue>2</issue><spage>157</spage><epage>167</epage><pages>157-167</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><abstract>Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23 leads to p25; this had previously been localised to segment p23 leads to pter.</abstract><cop>Germany</cop><pmid>457140</pmid><doi>10.1007/BF00286899</doi><tpages>11</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1979-04, Vol.48 (2), p.157-167 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_74595115 |
| source | MEDLINE; SpringerNature Journals |
| subjects | Abnormalities, Multiple - genetics Chromosome Aberrations Chromosome Mapping Chromosomes, Human, 1-3 Chromosomes, Human, 6-12 and X Endopeptidases - genetics Female Foot Deformities, Congenital Humans Infant Infant, Newborn Malate Dehydrogenase - genetics Male Translocation, Genetic |
| title | Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-30T17%3A10%3A53IST&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=Three%20cases%20of%20ring%20chromosome%202,%20one%20derived%20from%20a%20paternal%202/6%20translocation&rft.jtitle=Human%20genetics&rft.au=Maraschio,%20P&rft.date=1979-04-27&rft.volume=48&rft.issue=2&rft.spage=157&rft.epage=167&rft.pages=157-167&rft.issn=0340-6717&rft.eissn=1432-1203&rft_id=info:doi/10.1007/BF00286899&rft_dat=%3Cproquest_cross%3E74595115%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=74595115&rft_id=info:pmid/457140&rfr_iscdi=true |