Isodicentric Y chromosome in an Ullrich-Turner patient without virilization
We report on a 17‐year‐old young woman with Ullrich‐Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age‐appropriate genitalia without virilization in spite of the presence of the Y‐derived marker chromosome and SRY locus in 70% of her lymphocytes. Having revi...
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| Veröffentlicht in: | American journal of medical genetics 2000-03, Vol.91 (2), p.99-101 |
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| container_title | American journal of medical genetics |
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| creator | Morava, Eva Hermann, Robert Czakó, Márta Soltész, Gyula Kosztolányi, György |
| description | We report on a 17‐year‐old young woman with Ullrich‐Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age‐appropriate genitalia without virilization in spite of the presence of the Y‐derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). Am. J. Med. Genet. 91:99–101, 2000. © 2000 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C |
| format | Article |
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She had age‐appropriate genitalia without virilization in spite of the presence of the Y‐derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). Am. J. Med. Genet. 91:99–101, 2000. © 2000 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C</identifier><identifier>PMID: 10748405</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Biological and medical sciences ; DNA-Binding Proteins - genetics ; Female ; Gynecology. Andrology. 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J. Med. Genet</addtitle><description>We report on a 17‐year‐old young woman with Ullrich‐Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age‐appropriate genitalia without virilization in spite of the presence of the Y‐derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). Am. J. Med. Genet. 91:99–101, 2000. © 2000 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Female</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Isochromosomes</subject><subject>isodicentric Y</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>Medical sciences</subject><subject>mosaic Ullrich-Turner syndrome</subject><subject>Mosaicism</subject><subject>Nuclear Proteins</subject><subject>Sex-Determining Region Y Protein</subject><subject>Transcription Factors</subject><subject>Turner Syndrome - genetics</subject><subject>Virilism - genetics</subject><subject>virilization</subject><subject>Y Chromosome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF1v0zAUhiMEYmXwF1AuENouUvyV1C5oUhXWElroRTcmro5cx1E98lHsZGP8ehxSBhJI-MbSOY9fvX6C4AyjMUaIvDrZZGl2ipFIIp4QfkKQPxTTU4Gn5I0Q0-ksexvN3n9Y0DM6RuN0_ZpE6YNgdP_kYTBCmPFoQoQ4Cp44d40Q9gPyODjCaMI4Q_EoWGauyY3SdWuNCj-HamebqnFNpUNTh7IOL8vSb3bRRWdrbcO9bI2Hw1vT7pquDW-MNaX57qdN_TR4VMjS6WeH-zi4nJ9fpO-i1XqRpbNVpBilNGIFRZLHmpOc57ggiGOl45hRjhTZiiKnVOUIiy2XJFYFpdjvGU6wzgXWmNHj4OWQu7fN1067FirjlC5LWeumczDxBhOGsQc_DaCyjXNWF7C3ppL2DjCCXjNArxl6Z9A7g1-aQWAgIASA1ww_NQMFBOnaj1Mf_PzQoNtWOv8jdvDqgRcHQDoly8LKWhn3myNcMNT_5GrAbk2p7_5q979y_-o2DHxyNCQb1-pv98nSfoFkQicxXH1cwIbNl6tlOocN_QEOOrP4</recordid><startdate>20000313</startdate><enddate>20000313</enddate><creator>Morava, Eva</creator><creator>Hermann, Robert</creator><creator>Czakó, Márta</creator><creator>Soltész, Gyula</creator><creator>Kosztolányi, György</creator><general>John Wiley & Sons, Inc</general><general>Wiley-Liss</general><scope>BSCLL</scope><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>20000313</creationdate><title>Isodicentric Y chromosome in an Ullrich-Turner patient without virilization</title><author>Morava, Eva ; Hermann, Robert ; Czakó, Márta ; Soltész, Gyula ; Kosztolányi, György</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4333-4f30a85e82d8d1f2081ce554380c2b9fd33cd019b8a25cf3311ce4161ed91e143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Female</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Isochromosomes</topic><topic>isodicentric Y</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</topic><topic>Medical sciences</topic><topic>mosaic Ullrich-Turner syndrome</topic><topic>Mosaicism</topic><topic>Nuclear Proteins</topic><topic>Sex-Determining Region Y Protein</topic><topic>Transcription Factors</topic><topic>Turner Syndrome - genetics</topic><topic>Virilism - genetics</topic><topic>virilization</topic><topic>Y Chromosome</topic><toplevel>online_resources</toplevel><creatorcontrib>Morava, Eva</creatorcontrib><creatorcontrib>Hermann, Robert</creatorcontrib><creatorcontrib>Czakó, Márta</creatorcontrib><creatorcontrib>Soltész, Gyula</creatorcontrib><creatorcontrib>Kosztolányi, György</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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Morava, Eva</au><au>Hermann, Robert</au><au>Czakó, Márta</au><au>Soltész, Gyula</au><au>Kosztolányi, György</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Isodicentric Y chromosome in an Ullrich-Turner patient without virilization</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2000-03-13</date><risdate>2000</risdate><volume>91</volume><issue>2</issue><spage>99</spage><epage>101</epage><pages>99-101</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on a 17‐year‐old young woman with Ullrich‐Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age‐appropriate genitalia without virilization in spite of the presence of the Y‐derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). Am. J. Med. Genet. 91:99–101, 2000. © 2000 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>10748405</pmid><doi>10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C</doi><tpages>3</tpages></addata></record> |
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| subjects | Adolescent Biological and medical sciences DNA-Binding Proteins - genetics Female Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Isochromosomes isodicentric Y Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences mosaic Ullrich-Turner syndrome Mosaicism Nuclear Proteins Sex-Determining Region Y Protein Transcription Factors Turner Syndrome - genetics Virilism - genetics virilization Y Chromosome |
| title | Isodicentric Y chromosome in an Ullrich-Turner patient without virilization |
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