Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses
A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PC...
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| Veröffentlicht in: | Prenatal diagnosis 1994-01, Vol.14 (1), p.23-28 |
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| container_title | Prenatal diagnosis |
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| creator | Slim, Rima Soulié, Joelle Hotmar, Jan Lecolier, Bertrand Bercau, Guy Bernheim, Alain |
| description | A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11·1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis. |
| doi_str_mv | 10.1002/pd.1970140105 |
| format | Article |
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Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11·1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1970140105</identifier><identifier>PMID: 8183834</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>45,X/46,X+mar mosaicism ; Adult ; Biological and medical sciences ; Diseases of mother, fetus and pregnancy ; Female ; FISH ; Gestational Age ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; isochromosome ; Karyotyping ; Male ; man ; Medical sciences ; Mosaicism ; Polymerase Chain Reaction ; Pregnancy ; Pregnancy. Fetus. Placenta ; Prenatal Diagnosis ; Sex Chromosome Aberrations - diagnosis ; X+mar mosaicism ; X/46 ; Y Chromosome ; Yp isochromosome</subject><ispartof>Prenatal diagnosis, 1994-01, Vol.14 (1), p.23-28</ispartof><rights>Copyright © 1994 John Wiley & Sons, Ltd.</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4345-40a3ea9bfbb1e9aa5fc4dfb26706d1e5941a776fe6409b07843bdda2ccdff9a33</citedby><cites>FETCH-LOGICAL-c4345-40a3ea9bfbb1e9aa5fc4dfb26706d1e5941a776fe6409b07843bdda2ccdff9a33</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.1970140105$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.1970140105$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,4009,27902,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3917252$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8183834$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Slim, Rima</creatorcontrib><creatorcontrib>Soulié, Joelle</creatorcontrib><creatorcontrib>Hotmar, Jan</creatorcontrib><creatorcontrib>Lecolier, Bertrand</creatorcontrib><creatorcontrib>Bercau, Guy</creatorcontrib><creatorcontrib>Bernheim, Alain</creatorcontrib><title>Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11·1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.</description><subject>45,X/46,X+mar mosaicism</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Diseases of mother, fetus and pregnancy</subject><subject>Female</subject><subject>FISH</subject><subject>Gestational Age</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>isochromosome</subject><subject>Karyotyping</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Mosaicism</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis</subject><subject>Sex Chromosome Aberrations - diagnosis</subject><subject>X+mar mosaicism</subject><subject>X/46</subject><subject>Y Chromosome</subject><subject>Yp isochromosome</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkcGL1DAUxoMo67h69CjkIKJg16RJmuYoo67iqCsosqfwmr440bapSQftf2-HGUa86Onl5fvlex95hNzn7IIzVj4b2wtuNOOScaZukBVnRhesLMVNsmKLUoha8dvkTs7fFrwujT4jZzWvRS3kiuSrhANM0NHQ4jAFHxxMIQ40egoDDTm6bYp9zLFH6mOi0xZp3sY0UUj9ntpfXNPw-Hp88pQ2M3XzFL_igFNwi0NL38UO3a6DtHTQzRnzXXLLQ5fx3rGek8-vXn5avy42Hy7frJ9vCieFVIVkIBBM45uGowFQ3snWN2WlWdVyVEZy0LryWElmGqZrKZq2hdK51nsDQpyTRwffMcUfO8yT7UN22HUwYNxlqytZ85Kb_4K8qiVXSi5gcQBdijkn9HZMoYc0W87sfht2bO2fbSz8g6PxrumxPdHH71_0h0cdsoPOJxhcyCdMGK5LVS6YPmA_Q4fzv2faqxd_BTgGDnnCX6eXkL7bSgut7Jf3l3Yt3oqPG6WWw2-ht7G7</recordid><startdate>199401</startdate><enddate>199401</enddate><creator>Slim, Rima</creator><creator>Soulié, Joelle</creator><creator>Hotmar, Jan</creator><creator>Lecolier, Bertrand</creator><creator>Bercau, Guy</creator><creator>Bernheim, Alain</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>199401</creationdate><title>Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses</title><author>Slim, Rima ; Soulié, Joelle ; Hotmar, Jan ; Lecolier, Bertrand ; Bercau, Guy ; Bernheim, Alain</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4345-40a3ea9bfbb1e9aa5fc4dfb26706d1e5941a776fe6409b07843bdda2ccdff9a33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>45,X/46,X+mar mosaicism</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Diseases of mother, fetus and pregnancy</topic><topic>Female</topic><topic>FISH</topic><topic>Gestational Age</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>isochromosome</topic><topic>Karyotyping</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Mosaicism</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>Sex Chromosome Aberrations - diagnosis</topic><topic>X+mar mosaicism</topic><topic>X/46</topic><topic>Y Chromosome</topic><topic>Yp isochromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Slim, Rima</creatorcontrib><creatorcontrib>Soulié, Joelle</creatorcontrib><creatorcontrib>Hotmar, Jan</creatorcontrib><creatorcontrib>Lecolier, Bertrand</creatorcontrib><creatorcontrib>Bercau, Guy</creatorcontrib><creatorcontrib>Bernheim, Alain</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>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Slim, Rima</au><au>Soulié, Joelle</au><au>Hotmar, Jan</au><au>Lecolier, Bertrand</au><au>Bercau, Guy</au><au>Bernheim, Alain</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1994-01</date><risdate>1994</risdate><volume>14</volume><issue>1</issue><spage>23</spage><epage>28</epage><pages>23-28</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11·1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>8183834</pmid><doi>10.1002/pd.1970140105</doi><tpages>6</tpages></addata></record> |
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| subjects | 45,X/46,X+mar mosaicism Adult Biological and medical sciences Diseases of mother, fetus and pregnancy Female FISH Gestational Age Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence isochromosome Karyotyping Male man Medical sciences Mosaicism Polymerase Chain Reaction Pregnancy Pregnancy. Fetus. Placenta Prenatal Diagnosis Sex Chromosome Aberrations - diagnosis X+mar mosaicism X/46 Y Chromosome Yp isochromosome |
| title | Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses |
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