Apparent Opitz BBBG syndrome with a partial duplication of 5p
We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated re...
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| Veröffentlicht in: | American journal of medical genetics 1991-08, Vol.40 (2), p.173-176 |
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| container_end_page | 176 |
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| container_issue | 2 |
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| container_title | American journal of medical genetics |
| container_volume | 40 |
| creator | Leichtman, Lawrence G. Werner, Alice Bass, W. Thomas Smith, Deborah Brothman, Arthur R. |
| description | We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region. |
| doi_str_mv | 10.1002/ajmg.1320400210 |
| format | Article |
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Thomas ; Smith, Deborah ; Brothman, Arthur R.</creator><creatorcontrib>Leichtman, Lawrence G. ; Werner, Alice ; Bass, W. Thomas ; Smith, Deborah ; Brothman, Arthur R.</creatorcontrib><description>We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320400210</identifier><identifier>PMID: 1897571</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Biological and medical sciences ; chromosome 5 ; Chromosome aberrations ; Chromosome Inversion ; Chromosomes, Human, Pair 5 ; duplication ; gene locus ; Humans ; Hypertelorism - genetics ; Infant, Newborn ; laryngeal cleft ; Larynx - abnormalities ; Male ; Medical genetics ; Medical sciences ; multiple congenital anomalies ; Opitz G syndrome ; Opitz-Frias syndrome ; partial trisomy ; Syndrome ; Trisomy</subject><ispartof>American journal of medical genetics, 1991-08, Vol.40 (2), p.173-176</ispartof><rights>Copyright © 1991 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4420-fb4c1efd40780ec497e722522321902405bf2f6c9ba3ed2c8ac76f4511e081d53</citedby><cites>FETCH-LOGICAL-c4420-fb4c1efd40780ec497e722522321902405bf2f6c9ba3ed2c8ac76f4511e081d53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4977332$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1897571$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Leichtman, Lawrence G.</creatorcontrib><creatorcontrib>Werner, Alice</creatorcontrib><creatorcontrib>Bass, W. 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This implies that the gene responsible for this single gene defect may be located within this duplicated region.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>chromosome 5</subject><subject>Chromosome aberrations</subject><subject>Chromosome Inversion</subject><subject>Chromosomes, Human, Pair 5</subject><subject>duplication</subject><subject>gene locus</subject><subject>Humans</subject><subject>Hypertelorism - genetics</subject><subject>Infant, Newborn</subject><subject>laryngeal cleft</subject><subject>Larynx - abnormalities</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>multiple congenital anomalies</subject><subject>Opitz G syndrome</subject><subject>Opitz-Frias syndrome</subject><subject>partial trisomy</subject><subject>Syndrome</subject><subject>Trisomy</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtPGzEQxq2qCALtmROSD1VvCx4_1mtVPSQIAohHq6bq0XK8NjXdV-2NIPz1LNoIxInTaGZ-3zw-hPaBHAIh9Mjc1beHwCjhQwbkA5oAUXlW5LT4iCYEeJFJqtQO2k3pjhAYCnQbbUOhpJAwQd-nXWeia3p804X-Ec9mszlO66aMbe3wfej_YoMHog-mwuWqq4I1fWgb3Hosuk9oy5squc-buId-n54sjs-yy5v5-fH0MrOcU5L5JbfgfMmJLIizXEknKRWUMgqKUE7E0lOfW7U0zJXUFsbK3HMB4EgBpWB76Os4t4vt_5VLva5Dsq6qTOPaVdKSAhDO1LsgCJULLuQAHo2gjW1K0XndxVCbuNZA9LOz-tlZ_ersoDjYjF4ta1e-8qOVQ__Lpm-SNZWPprEhvWDD05IxOmDfRuw-VG793lY9vbiavzkiG9Uh9e7hRW3iP51LJoX-cz3Xix8_rxbXs1P9iz0B6LKfQQ</recordid><startdate>19910801</startdate><enddate>19910801</enddate><creator>Leichtman, Lawrence G.</creator><creator>Werner, Alice</creator><creator>Bass, W. 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Thomas ; Smith, Deborah ; Brothman, Arthur R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4420-fb4c1efd40780ec497e722522321902405bf2f6c9ba3ed2c8ac76f4511e081d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>chromosome 5</topic><topic>Chromosome aberrations</topic><topic>Chromosome Inversion</topic><topic>Chromosomes, Human, Pair 5</topic><topic>duplication</topic><topic>gene locus</topic><topic>Humans</topic><topic>Hypertelorism - genetics</topic><topic>Infant, Newborn</topic><topic>laryngeal cleft</topic><topic>Larynx - abnormalities</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>multiple congenital anomalies</topic><topic>Opitz G syndrome</topic><topic>Opitz-Frias syndrome</topic><topic>partial trisomy</topic><topic>Syndrome</topic><topic>Trisomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Leichtman, Lawrence G.</creatorcontrib><creatorcontrib>Werner, Alice</creatorcontrib><creatorcontrib>Bass, W. Thomas</creatorcontrib><creatorcontrib>Smith, Deborah</creatorcontrib><creatorcontrib>Brothman, Arthur R.</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>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><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Leichtman, Lawrence G.</au><au>Werner, Alice</au><au>Bass, W. Thomas</au><au>Smith, Deborah</au><au>Brothman, Arthur R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Apparent Opitz BBBG syndrome with a partial duplication of 5p</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1991-08-01</date><risdate>1991</risdate><volume>40</volume><issue>2</issue><spage>173</spage><epage>176</epage><pages>173-176</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1897571</pmid><doi>10.1002/ajmg.1320400210</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1991-08, Vol.40 (2), p.173-176 |
| issn | 0148-7299 1096-8628 |
| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - genetics Biological and medical sciences chromosome 5 Chromosome aberrations Chromosome Inversion Chromosomes, Human, Pair 5 duplication gene locus Humans Hypertelorism - genetics Infant, Newborn laryngeal cleft Larynx - abnormalities Male Medical genetics Medical sciences multiple congenital anomalies Opitz G syndrome Opitz-Frias syndrome partial trisomy Syndrome Trisomy |
| title | Apparent Opitz BBBG syndrome with a partial duplication of 5p |
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