H-Y antigen in 46,XY pure testicular dysgenesis
Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminom...
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Veröffentlicht in: | American journal of medical genetics 1979, Vol.3 (2), p.149-154 |
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creator | Nazareth, H. R. S. Moreira-Filho, C. A. Cunha, A. J. B. Vieira-Filho, J. P. B. Lengyel, A. M. J. Lima, M. C. Optiz, John M. |
description | Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F‐body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q‐banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H‐Y antigen were found in this case. |
doi_str_mv | 10.1002/ajmg.1320030206 |
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R. S. ; Moreira-Filho, C. A. ; Cunha, A. J. B. ; Vieira-Filho, J. P. B. ; Lengyel, A. M. J. ; Lima, M. C. ; Optiz, John M.</creator><creatorcontrib>Nazareth, H. R. S. ; Moreira-Filho, C. A. ; Cunha, A. J. B. ; Vieira-Filho, J. P. B. ; Lengyel, A. M. J. ; Lima, M. C. ; Optiz, John M.</creatorcontrib><description>Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F‐body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q‐banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H‐Y antigen were found in this case.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320030206</identifier><identifier>PMID: 474628</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Consanguinity ; Cytotoxicity Tests, Immunologic ; Dexamethasone ; dysgerminoma ; Dysgerminoma - genetics ; gonadoblastoma ; H-Y antigen ; H-Y Antigen - genetics ; Humans ; Male ; Pedigree ; Phenotype ; pure testicular dysgenesis ; Turner Syndrome - diagnosis ; Turner Syndrome - genetics ; Turner Syndrome - immunology</subject><ispartof>American journal of medical genetics, 1979, Vol.3 (2), p.149-154</ispartof><rights>Copyright © 1979 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3816-8fdb008ad5166f2592fe396af6fe4ee93ea45d8f4b522ce13029aee02a7bd9073</citedby><cites>FETCH-LOGICAL-c3816-8fdb008ad5166f2592fe396af6fe4ee93ea45d8f4b522ce13029aee02a7bd9073</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/474628$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nazareth, H. R. S.</creatorcontrib><creatorcontrib>Moreira-Filho, C. A.</creatorcontrib><creatorcontrib>Cunha, A. J. B.</creatorcontrib><creatorcontrib>Vieira-Filho, J. P. B.</creatorcontrib><creatorcontrib>Lengyel, A. M. J.</creatorcontrib><creatorcontrib>Lima, M. C.</creatorcontrib><creatorcontrib>Optiz, John M.</creatorcontrib><title>H-Y antigen in 46,XY pure testicular dysgenesis</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F‐body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q‐banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H‐Y antigen were found in this case.</description><subject>Adult</subject><subject>Consanguinity</subject><subject>Cytotoxicity Tests, Immunologic</subject><subject>Dexamethasone</subject><subject>dysgerminoma</subject><subject>Dysgerminoma - genetics</subject><subject>gonadoblastoma</subject><subject>H-Y antigen</subject><subject>H-Y Antigen - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>pure testicular dysgenesis</subject><subject>Turner Syndrome - diagnosis</subject><subject>Turner Syndrome - genetics</subject><subject>Turner Syndrome - immunology</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1979</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFj01PwkAQhjfGL0TPXjz0B1iY3W233XgCokWDekGU02bbzpJFQNItUf69S2ownjxNMu_HzEPIJYUOBWBdPV_OOpQzAA4MxAFpUZAiTAVLD0kLaJSGCZPylJw5NwegfsFOyHGURN7RIt1hOA30qrYzXAV2FUTi-m0arDcVBjW62habha6Ccuu8js66c3Jk9MLhxc9sk5e72_FgGI6es_tBbxQWPKX-vClzgFSXMRXCsFgyg1wKbYTBCFFy1FFcpibKY8YKpP53qRGB6SQvJSS8TbpNb1F9OFehUevKLnW1VRTUDlztwNUvuE9cNYn1Jl9iufc3pF6-aeRPu8Dtf22q9_CY_SkPm7R1NX7t07p6VyLhSaxenzLVjyfD8STr-55vqKRy-Q</recordid><startdate>1979</startdate><enddate>1979</enddate><creator>Nazareth, H. R. S.</creator><creator>Moreira-Filho, C. A.</creator><creator>Cunha, A. J. B.</creator><creator>Vieira-Filho, J. P. B.</creator><creator>Lengyel, A. M. J.</creator><creator>Lima, M. C.</creator><creator>Optiz, John M.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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></search><sort><creationdate>1979</creationdate><title>H-Y antigen in 46,XY pure testicular dysgenesis</title><author>Nazareth, H. R. S. ; Moreira-Filho, C. A. ; Cunha, A. J. B. ; Vieira-Filho, J. P. B. ; Lengyel, A. M. J. ; Lima, M. 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J. B.</creatorcontrib><creatorcontrib>Vieira-Filho, J. P. B.</creatorcontrib><creatorcontrib>Lengyel, A. M. J.</creatorcontrib><creatorcontrib>Lima, M. C.</creatorcontrib><creatorcontrib>Optiz, John M.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nazareth, H. R. S.</au><au>Moreira-Filho, C. A.</au><au>Cunha, A. J. B.</au><au>Vieira-Filho, J. P. B.</au><au>Lengyel, A. M. J.</au><au>Lima, M. C.</au><au>Optiz, John M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>H-Y antigen in 46,XY pure testicular dysgenesis</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1979</date><risdate>1979</risdate><volume>3</volume><issue>2</issue><spage>149</spage><epage>154</epage><pages>149-154</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>Clinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F‐body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q‐banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H‐Y antigen were found in this case.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>474628</pmid><doi>10.1002/ajmg.1320030206</doi><tpages>6</tpages></addata></record> |
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subjects | Adult Consanguinity Cytotoxicity Tests, Immunologic Dexamethasone dysgerminoma Dysgerminoma - genetics gonadoblastoma H-Y antigen H-Y Antigen - genetics Humans Male Pedigree Phenotype pure testicular dysgenesis Turner Syndrome - diagnosis Turner Syndrome - genetics Turner Syndrome - immunology |
title | H-Y antigen in 46,XY pure testicular dysgenesis |
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