Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment
Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The...
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| Veröffentlicht in: | Human genetics 1983-10, Vol.64 (4), p.388-394 |
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| creator | FRACCARO, M ZUFFARDI, O GARGANTINI, L LOSANOWA, T MARCA, L ULLRICH, E VIGI, V BÜHLER, E SCHINZEL, A SIMONI, G WITKOWSKI, R BONIFACI, E CAUFIN, D CIGNACCO, G DELENDI, N |
| description | Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome. |
| doi_str_mv | 10.1007/BF00292373 |
| format | Article |
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Analysis of seven cases after varying ascertainment</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>FRACCARO, M ; ZUFFARDI, O ; GARGANTINI, L ; LOSANOWA, T ; MARCA, L ; ULLRICH, E ; VIGI, V ; BÜHLER, E ; SCHINZEL, A ; SIMONI, G ; WITKOWSKI, R ; BONIFACI, E ; CAUFIN, D ; CIGNACCO, G ; DELENDI, N</creator><creatorcontrib>FRACCARO, M ; ZUFFARDI, O ; GARGANTINI, L ; LOSANOWA, T ; MARCA, L ; ULLRICH, E ; VIGI, V ; BÜHLER, E ; SCHINZEL, A ; SIMONI, G ; WITKOWSKI, R ; BONIFACI, E ; CAUFIN, D ; CIGNACCO, G ; DELENDI, N</creatorcontrib><description>Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. 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Analysis of seven cases after varying ascertainment</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Body Height</subject><subject>Body Weight</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, 13-15</subject><subject>Chromosomes, Human, 16-18</subject><subject>Chromosomes, Human, 19-20</subject><subject>Chromosomes, Human, 6-12 and X</subject><subject>Consanguinity</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Prader-Willi Syndrome - genetics</subject><subject>Translocation, Genetic</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1983</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkU1v1DAQhi0EKkvhwh1pDggBaoo_Eic-lkIBqRIcQByjiTMpRo69tbOL8tv4c3jVVTmNNPPonRk9jD0X_Fxw3r57f8W5NFK16gHbiFrJSkiuHrINVzWvdCvax-xJzr85F42RzQk70Vp0teEb9vcDTc46CnY9gyVhyNuY3eJiOAMMI4y7rXcWDw2IE8RAIJpbSHRz6My4wkCAfqEUCrQnvwLmHK3DhUb445Zf8C3hSKn66bx38DomQMhudh7TG8hrGFOc6RwuAvo1u3zYkmlPASxmyoBTyYY9ptWFm5JtKS3owkxhecoeTegzPTvWU_bj6uP3y8_V9ddPXy4vrisrpV4qNXEUXIpBDKSEJCOHrh61UG1H3Az10A2t6jpJQmtCbeTYWkmKD1PHeWM6dcpe3eVuU7zdUV762ZU7vMdAcZf7jmvdyKYu4Ns70KaYc6Kp3yY3l9N7wfuDqf6_qQK_OKbuhpnGe_SopsxfHuflafRTcWNdvseMFtIU1_8ABPSdBg</recordid><startdate>198310</startdate><enddate>198310</enddate><creator>FRACCARO, M</creator><creator>ZUFFARDI, O</creator><creator>GARGANTINI, L</creator><creator>LOSANOWA, T</creator><creator>MARCA, L</creator><creator>ULLRICH, E</creator><creator>VIGI, V</creator><creator>BÜHLER, E</creator><creator>SCHINZEL, A</creator><creator>SIMONI, G</creator><creator>WITKOWSKI, R</creator><creator>BONIFACI, E</creator><creator>CAUFIN, D</creator><creator>CIGNACCO, G</creator><creator>DELENDI, N</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>7X8</scope></search><sort><creationdate>198310</creationdate><title>Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment</title><author>FRACCARO, M ; ZUFFARDI, O ; GARGANTINI, L ; LOSANOWA, T ; MARCA, L ; ULLRICH, E ; VIGI, V ; BÜHLER, E ; SCHINZEL, A ; SIMONI, G ; WITKOWSKI, R ; BONIFACI, E ; CAUFIN, D ; CIGNACCO, G ; DELENDI, N</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c226t-3f0a1021b1be312e92b84d61378e09b4b8b73882e166ea692d7c2e30bf8005983</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1983</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Body Height</topic><topic>Body Weight</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, 13-15</topic><topic>Chromosomes, Human, 16-18</topic><topic>Chromosomes, Human, 19-20</topic><topic>Chromosomes, Human, 6-12 and X</topic><topic>Consanguinity</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Prader-Willi Syndrome - genetics</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>FRACCARO, M</creatorcontrib><creatorcontrib>ZUFFARDI, O</creatorcontrib><creatorcontrib>GARGANTINI, L</creatorcontrib><creatorcontrib>LOSANOWA, T</creatorcontrib><creatorcontrib>MARCA, L</creatorcontrib><creatorcontrib>ULLRICH, E</creatorcontrib><creatorcontrib>VIGI, V</creatorcontrib><creatorcontrib>BÜHLER, E</creatorcontrib><creatorcontrib>SCHINZEL, A</creatorcontrib><creatorcontrib>SIMONI, G</creatorcontrib><creatorcontrib>WITKOWSKI, R</creatorcontrib><creatorcontrib>BONIFACI, E</creatorcontrib><creatorcontrib>CAUFIN, D</creatorcontrib><creatorcontrib>CIGNACCO, G</creatorcontrib><creatorcontrib>DELENDI, N</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>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>FRACCARO, M</au><au>ZUFFARDI, O</au><au>GARGANTINI, L</au><au>LOSANOWA, T</au><au>MARCA, L</au><au>ULLRICH, E</au><au>VIGI, V</au><au>BÜHLER, E</au><au>SCHINZEL, A</au><au>SIMONI, G</au><au>WITKOWSKI, R</au><au>BONIFACI, E</au><au>CAUFIN, D</au><au>CIGNACCO, G</au><au>DELENDI, N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1983-10</date><risdate>1983</risdate><volume>64</volume><issue>4</issue><spage>388</spage><epage>394</epage><pages>388-394</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>6618490</pmid><doi>10.1007/BF00292373</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1983-10, Vol.64 (4), p.388-394 |
| issn | 0340-6717 1432-1203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_80665254 |
| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Adolescent Adult Biological and medical sciences Body Height Body Weight Child Child, Preschool Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 13-15 Chromosomes, Human, 16-18 Chromosomes, Human, 19-20 Chromosomes, Human, 6-12 and X Consanguinity Female Humans Infant Infant, Newborn Karyotyping Male Medical genetics Medical sciences Prader-Willi Syndrome - genetics Translocation, Genetic |
| title | Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment |
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