Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21
Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the shor...
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| Veröffentlicht in: | Prenatal diagnosis 2002-08, Vol.22 (8), p.675-680 |
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| container_title | Prenatal diagnosis |
| container_volume | 22 |
| creator | Nataf, V. Senat, M. V. Albert, M. Bidat, L. Mazancourt, P. de Roume, J. Allard, L. Tessier, D. Le Ville, Y. Selva, J. |
| description | Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.376 |
| format | Article |
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V. ; Albert, M. ; Bidat, L. ; Mazancourt, P. de ; Roume, J. ; Allard, L. ; Tessier, D. Le ; Ville, Y. ; Selva, J.</creator><creatorcontrib>Nataf, V. ; Senat, M. V. ; Albert, M. ; Bidat, L. ; Mazancourt, P. de ; Roume, J. ; Allard, L. ; Tessier, D. Le ; Ville, Y. ; Selva, J.</creatorcontrib><description>Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.376</identifier><identifier>PMID: 12210575</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>45,X male ; Adult ; Amniocentesis ; Biological and medical sciences ; Chromosome Breakage ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; DNA-Binding Proteins - genetics ; Female ; Gene Deletion ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Management. Prenatal diagnosis ; Maternal Age ; Medical sciences ; Nuclear Proteins ; Phenotype ; Pregnancy ; Pregnancy, High-Risk ; Pregnancy. Fetus. Placenta ; prenatal ; Sex Chromosome Aberrations ; Sex-Determining Region Y Protein ; SHOX ; SRY ; Transcription Factors ; Translocation, Genetic ; X male</subject><ispartof>Prenatal diagnosis, 2002-08, Vol.22 (8), p.675-680</ispartof><rights>Copyright © 2002 John Wiley & Sons, Ltd.</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2002 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3796-ff21f88495382f25da6d803dde6475b13674081dda859bffc1a28c52068287643</citedby><cites>FETCH-LOGICAL-c3796-ff21f88495382f25da6d803dde6475b13674081dda859bffc1a28c52068287643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.376$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.376$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13814763$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12210575$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nataf, V.</creatorcontrib><creatorcontrib>Senat, M. V.</creatorcontrib><creatorcontrib>Albert, M.</creatorcontrib><creatorcontrib>Bidat, L.</creatorcontrib><creatorcontrib>Mazancourt, P. de</creatorcontrib><creatorcontrib>Roume, J.</creatorcontrib><creatorcontrib>Allard, L.</creatorcontrib><creatorcontrib>Tessier, D. Le</creatorcontrib><creatorcontrib>Ville, Y.</creatorcontrib><creatorcontrib>Selva, J.</creatorcontrib><title>Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.</description><subject>45,X male</subject><subject>Adult</subject><subject>Amniocentesis</subject><subject>Biological and medical sciences</subject><subject>Chromosome Breakage</subject><subject>Chromosomes, Human, Pair 21</subject><subject>Chromosomes, Human, X</subject><subject>Chromosomes, Human, Y</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Management. Prenatal diagnosis</subject><subject>Maternal Age</subject><subject>Medical sciences</subject><subject>Nuclear Proteins</subject><subject>Phenotype</subject><subject>Pregnancy</subject><subject>Pregnancy, High-Risk</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>prenatal</subject><subject>Sex Chromosome Aberrations</subject><subject>Sex-Determining Region Y Protein</subject><subject>SHOX</subject><subject>SRY</subject><subject>Transcription Factors</subject><subject>Translocation, Genetic</subject><subject>X male</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10MtKAzEUBuAgitaqjyCzURCcmsvkMkutWsWipdbrJqSTpI3OpSYttW_vSIu6cXUOh4__wA_AHoItBCE-megW4WwNNBBMeQwxJuugAVG9E0HRFtgO4a12Aqd8E2whjBGknDbAWc-bUk1VHmmnRmUVXIgqG6koocfPUaFyE83ddFwf7vsv8dAo78pRlI19VVShKkyE0Q7YsCoPZnc1m-Dh8mLQvoq7d53r9mk3zghPWWwtRlaIJKVEYIupVkwLSLQ2LOF0iAjjCRRIayVoOrQ2QwqLjGLIBBacJaQJDpe5E199zEyYysKFzOS5Kk01C5JjSCnBf2DmqxC8sXLiXaH8QiIov9uSEy3rtmq4v0qcDQujf9mqnhocrIAKmcqtV2Xmwq8jAiV1Tu2Olm7ucrP4553snS-fxkvrwtR8_ljl3yXjhFP5dNuR_dfBDeo8MsnJF3h7iic</recordid><startdate>200208</startdate><enddate>200208</enddate><creator>Nataf, V.</creator><creator>Senat, M. V.</creator><creator>Albert, M.</creator><creator>Bidat, L.</creator><creator>Mazancourt, P. de</creator><creator>Roume, J.</creator><creator>Allard, L.</creator><creator>Tessier, D. Le</creator><creator>Ville, Y.</creator><creator>Selva, J.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</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>200208</creationdate><title>Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21</title><author>Nataf, V. ; Senat, M. V. ; Albert, M. ; Bidat, L. ; Mazancourt, P. de ; Roume, J. ; Allard, L. ; Tessier, D. Le ; Ville, Y. ; Selva, J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3796-ff21f88495382f25da6d803dde6475b13674081dda859bffc1a28c52068287643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>45,X male</topic><topic>Adult</topic><topic>Amniocentesis</topic><topic>Biological and medical sciences</topic><topic>Chromosome Breakage</topic><topic>Chromosomes, Human, Pair 21</topic><topic>Chromosomes, Human, X</topic><topic>Chromosomes, Human, Y</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Management. Prenatal diagnosis</topic><topic>Maternal Age</topic><topic>Medical sciences</topic><topic>Nuclear Proteins</topic><topic>Phenotype</topic><topic>Pregnancy</topic><topic>Pregnancy, High-Risk</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>prenatal</topic><topic>Sex Chromosome Aberrations</topic><topic>Sex-Determining Region Y Protein</topic><topic>SHOX</topic><topic>SRY</topic><topic>Transcription Factors</topic><topic>Translocation, Genetic</topic><topic>X male</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nataf, V.</creatorcontrib><creatorcontrib>Senat, M. V.</creatorcontrib><creatorcontrib>Albert, M.</creatorcontrib><creatorcontrib>Bidat, L.</creatorcontrib><creatorcontrib>Mazancourt, P. de</creatorcontrib><creatorcontrib>Roume, J.</creatorcontrib><creatorcontrib>Allard, L.</creatorcontrib><creatorcontrib>Tessier, D. 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Diagn</addtitle><date>2002-08</date><risdate>2002</risdate><volume>22</volume><issue>8</issue><spage>675</spage><epage>680</epage><pages>675-680</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>12210575</pmid><doi>10.1002/pd.376</doi><tpages>6</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | 45,X male Adult Amniocentesis Biological and medical sciences Chromosome Breakage Chromosomes, Human, Pair 21 Chromosomes, Human, X Chromosomes, Human, Y DNA-Binding Proteins - genetics Female Gene Deletion Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Karyotyping Management. Prenatal diagnosis Maternal Age Medical sciences Nuclear Proteins Phenotype Pregnancy Pregnancy, High-Risk Pregnancy. Fetus. Placenta prenatal Sex Chromosome Aberrations Sex-Determining Region Y Protein SHOX SRY Transcription Factors Translocation, Genetic X male |
| title | Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21 |
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