Identification of Y-Chromosome Sequences in Turner Syndrome
Objectives To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. Methods The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were perfor...
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| Veröffentlicht in: | Indian journal of pediatrics 2016-05, Vol.83 (5), p.405-409 |
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| creator | da Silva-Grecco, Roseane Lopes Trovó-Marqui, Alessandra Bernadete de Sousa, Tiago Alves Da Croce, Lilian Balarin, Marly Aparecida Spadotto |
| description | Objectives
To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome.
Methods
The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences
DYZ1
,
DYZ3
,
ZFY
and
SRY
were amplified by Polymerase Chain Reaction.
Results
The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis.
Conclusion
The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis. |
| doi_str_mv | 10.1007/s12098-015-1929-6 |
| format | Article |
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To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome.
Methods
The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences
DYZ1
,
DYZ3
,
ZFY
and
SRY
were amplified by Polymerase Chain Reaction.
Results
The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis.
Conclusion
The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.</description><identifier>ISSN: 0019-5456</identifier><identifier>EISSN: 0973-7693</identifier><identifier>DOI: 10.1007/s12098-015-1929-6</identifier><identifier>PMID: 26634260</identifier><language>eng</language><publisher>New Delhi: Springer India</publisher><subject>Adolescent ; Brazil - epidemiology ; Child ; Chromosomes, Human, Y - genetics ; Female ; Gynecology ; Humans ; Karyotyping - methods ; Medicine ; Medicine & Public Health ; Mosaicism ; Original Article ; Pediatrics ; Sequence Analysis - methods ; Turner Syndrome - epidemiology ; Turner Syndrome - genetics</subject><ispartof>Indian journal of pediatrics, 2016-05, Vol.83 (5), p.405-409</ispartof><rights>Dr. K C Chaudhuri Foundation 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c344t-25f89cdc9cd668eeffdeaf1d111a79b3ef04a47d82c7f49ca7be60ecf990264d3</citedby><cites>FETCH-LOGICAL-c344t-25f89cdc9cd668eeffdeaf1d111a79b3ef04a47d82c7f49ca7be60ecf990264d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12098-015-1929-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12098-015-1929-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27929,27930,41493,42562,51324</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26634260$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>da Silva-Grecco, Roseane Lopes</creatorcontrib><creatorcontrib>Trovó-Marqui, Alessandra Bernadete</creatorcontrib><creatorcontrib>de Sousa, Tiago Alves</creatorcontrib><creatorcontrib>Da Croce, Lilian</creatorcontrib><creatorcontrib>Balarin, Marly Aparecida Spadotto</creatorcontrib><title>Identification of Y-Chromosome Sequences in Turner Syndrome</title><title>Indian journal of pediatrics</title><addtitle>Indian J Pediatr</addtitle><addtitle>Indian J Pediatr</addtitle><description>Objectives
To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome.
Methods
The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences
DYZ1
,
DYZ3
,
ZFY
and
SRY
were amplified by Polymerase Chain Reaction.
Results
The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis.
Conclusion
The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.</description><subject>Adolescent</subject><subject>Brazil - epidemiology</subject><subject>Child</subject><subject>Chromosomes, Human, Y - genetics</subject><subject>Female</subject><subject>Gynecology</subject><subject>Humans</subject><subject>Karyotyping - methods</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mosaicism</subject><subject>Original Article</subject><subject>Pediatrics</subject><subject>Sequence Analysis - methods</subject><subject>Turner Syndrome - epidemiology</subject><subject>Turner Syndrome - genetics</subject><issn>0019-5456</issn><issn>0973-7693</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD1PwzAURS0EoqXwA1hQRhaDPxI7FhOq-KhUiaFlYLJc-xlSNXGxk6H_HlctjAyWLfncq_cOQteU3FFC5H2ijKgaE1phqpjC4gSNiZIcS6H4aX4TqnBVVmKELlJaE8IUEeocjZgQvGSCjNHDzEHXN76xpm9CVwRffODpVwxtSKGFYgHfA3QWUtF0xXKIHcRisetcBuASnXmzSXB1vCfo_flpOX3F87eX2fRxji0vyx6zytfKOpuPEDWA9w6Mp45SaqRacfCkNKV0NbPSl8oauQJBwHqlCBOl4xN0e-jdxpCnSb1um2RhszEdhCFpKmvOec1qklF6QG0MKUXwehub1sSdpkTvnemDM52d6b0zLXLm5lg_rFpwf4lfSRlgByDlr-4Tol6HbCKv_E_rDxY0d5Q</recordid><startdate>20160501</startdate><enddate>20160501</enddate><creator>da Silva-Grecco, Roseane Lopes</creator><creator>Trovó-Marqui, Alessandra Bernadete</creator><creator>de Sousa, Tiago Alves</creator><creator>Da Croce, Lilian</creator><creator>Balarin, Marly Aparecida Spadotto</creator><general>Springer India</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>20160501</creationdate><title>Identification of Y-Chromosome Sequences in Turner Syndrome</title><author>da Silva-Grecco, Roseane Lopes ; Trovó-Marqui, Alessandra Bernadete ; de Sousa, Tiago Alves ; Da Croce, Lilian ; Balarin, Marly Aparecida Spadotto</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c344t-25f89cdc9cd668eeffdeaf1d111a79b3ef04a47d82c7f49ca7be60ecf990264d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adolescent</topic><topic>Brazil - epidemiology</topic><topic>Child</topic><topic>Chromosomes, Human, Y - genetics</topic><topic>Female</topic><topic>Gynecology</topic><topic>Humans</topic><topic>Karyotyping - methods</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mosaicism</topic><topic>Original Article</topic><topic>Pediatrics</topic><topic>Sequence Analysis - methods</topic><topic>Turner Syndrome - epidemiology</topic><topic>Turner Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>da Silva-Grecco, Roseane Lopes</creatorcontrib><creatorcontrib>Trovó-Marqui, Alessandra Bernadete</creatorcontrib><creatorcontrib>de Sousa, Tiago Alves</creatorcontrib><creatorcontrib>Da Croce, Lilian</creatorcontrib><creatorcontrib>Balarin, Marly Aparecida Spadotto</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>Indian journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>da Silva-Grecco, Roseane Lopes</au><au>Trovó-Marqui, Alessandra Bernadete</au><au>de Sousa, Tiago Alves</au><au>Da Croce, Lilian</au><au>Balarin, Marly Aparecida Spadotto</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Y-Chromosome Sequences in Turner Syndrome</atitle><jtitle>Indian journal of pediatrics</jtitle><stitle>Indian J Pediatr</stitle><addtitle>Indian J Pediatr</addtitle><date>2016-05-01</date><risdate>2016</risdate><volume>83</volume><issue>5</issue><spage>405</spage><epage>409</epage><pages>405-409</pages><issn>0019-5456</issn><eissn>0973-7693</eissn><abstract>Objectives
To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome.
Methods
The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences
DYZ1
,
DYZ3
,
ZFY
and
SRY
were amplified by Polymerase Chain Reaction.
Results
The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis.
Conclusion
The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.</abstract><cop>New Delhi</cop><pub>Springer India</pub><pmid>26634260</pmid><doi>10.1007/s12098-015-1929-6</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; SpringerNature Journals |
| subjects | Adolescent Brazil - epidemiology Child Chromosomes, Human, Y - genetics Female Gynecology Humans Karyotyping - methods Medicine Medicine & Public Health Mosaicism Original Article Pediatrics Sequence Analysis - methods Turner Syndrome - epidemiology Turner Syndrome - genetics |
| title | Identification of Y-Chromosome Sequences in Turner Syndrome |
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