Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic
Forty patients with unequivocal Turner stigmata and cardiovascular disease were studied. Every patient had complete documentation of both his cardiovascular disease and chromosomal constitution by physical examination, electrocardiogram, roentgenogram and cardiac catheterization, chromosome preparat...
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| Veröffentlicht in: | The American journal of cardiology 1970-06, Vol.25 (6), p.639-641 |
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| container_title | The American journal of cardiology |
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| creator | Nora, James J. Torres, Francisco G. Sinha, Anil K. McNamara, Dan G. |
| description | Forty patients with unequivocal Turner stigmata and cardiovascular disease were studied. Every patient had complete documentation of both his cardiovascular disease and chromosomal constitution by physical examination, electrocardiogram, roentgenogram and cardiac catheterization, chromosome preparation and buccal mucosal smear. Two clusters of cardiovascular lesions were observed. Coarctation of the aorta occurred in 11 of 16 patients with XO Turner syndrome but not in any of the patients with Turner phenotype or Turner mosaic constitution. Pulmonic stenosis was present in 21 of 24 patients with Turner phenotype and Turner mosaic constitution but was not encountered in those with XO Turner syndrome. |
| doi_str_mv | 10.1016/0002-9149(70)90612-0 |
| format | Article |
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Every patient had complete documentation of both his cardiovascular disease and chromosomal constitution by physical examination, electrocardiogram, roentgenogram and cardiac catheterization, chromosome preparation and buccal mucosal smear. Two clusters of cardiovascular lesions were observed. Coarctation of the aorta occurred in 11 of 16 patients with XO Turner syndrome but not in any of the patients with Turner phenotype or Turner mosaic constitution. Pulmonic stenosis was present in 21 of 24 patients with Turner phenotype and Turner mosaic constitution but was not encountered in those with XO Turner syndrome.</description><identifier>ISSN: 0002-9149</identifier><identifier>EISSN: 1879-1913</identifier><identifier>DOI: 10.1016/0002-9149(70)90612-0</identifier><identifier>PMID: 5420904</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Aortic Coarctation - genetics ; Dextrocardia - genetics ; Ductus Arteriosus, Patent - genetics ; Heart Defects, Congenital - genetics ; Heart Septal Defects, Atrial - genetics ; Heart Septal Defects, Ventricular - genetics ; Humans ; Karyotyping ; Mosaicism ; Phenotype ; Pulmonary Valve Stenosis - genetics ; Turner Syndrome - diagnosis</subject><ispartof>The American journal of cardiology, 1970-06, Vol.25 (6), p.639-641</ispartof><rights>1970</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c423t-7efac9bc174a3922931d6a24091ea7a4bd63509fea577f4b715a4593cbcb41d33</citedby><cites>FETCH-LOGICAL-c423t-7efac9bc174a3922931d6a24091ea7a4bd63509fea577f4b715a4593cbcb41d33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0002914970906120$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/5420904$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nora, James J.</creatorcontrib><creatorcontrib>Torres, Francisco G.</creatorcontrib><creatorcontrib>Sinha, Anil K.</creatorcontrib><creatorcontrib>McNamara, Dan G.</creatorcontrib><title>Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic</title><title>The American journal of cardiology</title><addtitle>Am J Cardiol</addtitle><description>Forty patients with unequivocal Turner stigmata and cardiovascular disease were studied. Every patient had complete documentation of both his cardiovascular disease and chromosomal constitution by physical examination, electrocardiogram, roentgenogram and cardiac catheterization, chromosome preparation and buccal mucosal smear. Two clusters of cardiovascular lesions were observed. Coarctation of the aorta occurred in 11 of 16 patients with XO Turner syndrome but not in any of the patients with Turner phenotype or Turner mosaic constitution. Pulmonic stenosis was present in 21 of 24 patients with Turner phenotype and Turner mosaic constitution but was not encountered in those with XO Turner syndrome.</description><subject>Aortic Coarctation - genetics</subject><subject>Dextrocardia - genetics</subject><subject>Ductus Arteriosus, Patent - genetics</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Heart Septal Defects, Atrial - genetics</subject><subject>Heart Septal Defects, Ventricular - genetics</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Mosaicism</subject><subject>Phenotype</subject><subject>Pulmonary Valve Stenosis - genetics</subject><subject>Turner Syndrome - diagnosis</subject><issn>0002-9149</issn><issn>1879-1913</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1970</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LxDAQhoMoun78A4WcRMFq0qSNuQiy-AXCXhTWU5gmU4y0zZq0C_vv7bqLR09D5n1mhjyEnHJ2zRkvbxhjeaa51BeKXWpW8jxjO2TCb5XOuOZil0z-kANymNLX-OS8KPfJfiFzppmckK_pJ0SwPUafem-pheh8WEKyQwORQhdaaDwmGmo6n9G3IXYYaVp1LoYWr-h8PjKOzj_o4hO70K8WuGnMbsZoi7chgbfHZK-GJuHJth6R98eHt-lz9jp7epnev2ZW5qLPFNZgdWW5kiB0nmvBXQm5ZJojKJCVK0XBdI1QKFXLSvECZKGFrWwluRPiiJxv9i5i-B4w9ab1yWLTQIdhSOZWFqXUIh9BuQFtDClFrM0i-hbiynBm1orN2p9Z-zOKmV_Fho1jZ9v9Q9Wi-xvaOh3zu02O4yeXHqNJ1mNn0fmItjcu-P8P_ABQKorP</recordid><startdate>197006</startdate><enddate>197006</enddate><creator>Nora, James J.</creator><creator>Torres, Francisco G.</creator><creator>Sinha, Anil K.</creator><creator>McNamara, Dan G.</creator><general>Elsevier Inc</general><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>197006</creationdate><title>Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic</title><author>Nora, James J. ; Torres, Francisco G. ; Sinha, Anil K. ; McNamara, Dan G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c423t-7efac9bc174a3922931d6a24091ea7a4bd63509fea577f4b715a4593cbcb41d33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1970</creationdate><topic>Aortic Coarctation - genetics</topic><topic>Dextrocardia - genetics</topic><topic>Ductus Arteriosus, Patent - genetics</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Heart Septal Defects, Atrial - genetics</topic><topic>Heart Septal Defects, Ventricular - genetics</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Mosaicism</topic><topic>Phenotype</topic><topic>Pulmonary Valve Stenosis - genetics</topic><topic>Turner Syndrome - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nora, James J.</creatorcontrib><creatorcontrib>Torres, Francisco G.</creatorcontrib><creatorcontrib>Sinha, Anil K.</creatorcontrib><creatorcontrib>McNamara, Dan G.</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>The American journal of cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nora, James J.</au><au>Torres, Francisco G.</au><au>Sinha, Anil K.</au><au>McNamara, Dan G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic</atitle><jtitle>The American journal of cardiology</jtitle><addtitle>Am J Cardiol</addtitle><date>1970-06</date><risdate>1970</risdate><volume>25</volume><issue>6</issue><spage>639</spage><epage>641</epage><pages>639-641</pages><issn>0002-9149</issn><eissn>1879-1913</eissn><abstract>Forty patients with unequivocal Turner stigmata and cardiovascular disease were studied. Every patient had complete documentation of both his cardiovascular disease and chromosomal constitution by physical examination, electrocardiogram, roentgenogram and cardiac catheterization, chromosome preparation and buccal mucosal smear. Two clusters of cardiovascular lesions were observed. Coarctation of the aorta occurred in 11 of 16 patients with XO Turner syndrome but not in any of the patients with Turner phenotype or Turner mosaic constitution. Pulmonic stenosis was present in 21 of 24 patients with Turner phenotype and Turner mosaic constitution but was not encountered in those with XO Turner syndrome.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>5420904</pmid><doi>10.1016/0002-9149(70)90612-0</doi><tpages>3</tpages></addata></record> |
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| identifier | ISSN: 0002-9149 |
| ispartof | The American journal of cardiology, 1970-06, Vol.25 (6), p.639-641 |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Aortic Coarctation - genetics Dextrocardia - genetics Ductus Arteriosus, Patent - genetics Heart Defects, Congenital - genetics Heart Septal Defects, Atrial - genetics Heart Septal Defects, Ventricular - genetics Humans Karyotyping Mosaicism Phenotype Pulmonary Valve Stenosis - genetics Turner Syndrome - diagnosis |
| title | Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic |
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