Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome
Background. The presence of Y chromosome material in Turner’s syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrat...
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| Veröffentlicht in: | Genetics Research International 2013-01, Vol.2013 (2013), p.48-52 |
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| creator | El-Eshmawy, Mervat M. Yahia, Sohier El-Dahtory, Faeza A. Hamed, Sahar El Hadidy, El Hadidy M. Ragab, Mohamed |
| description | Background. The presence of Y chromosome material in Turner’s syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients. |
| doi_str_mv | 10.1155/2013/463529 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3745850</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A373578869</galeid><airiti_id>P20151113002_201312_201709120025_201709120025_48_52</airiti_id><sourcerecordid>A373578869</sourcerecordid><originalsourceid>FETCH-LOGICAL-a488t-8692eca35952ff10524628b606f14df89a78d340ece833033859e2d94853b76e3</originalsourceid><addsrcrecordid>eNqFkU1vEzEQhleIilZtT5xBljiAqNL6e-0LUhW1FBREJcqBk-Xsziaudu3U3lDl39fJtilBSNgH2zPPvJ6PonhN8CkhQpxRTNgZl0xQ_aI4oFjjESOSvtzeBd8vjlO6xXlJLKTQr4p9yrTiuJQHxeTK1TV49AuN5zF0IYUO0LeQrKtc6pDziCt0MVstemc9ura9A98ndO_6ObpZRg_xfUI_Vr7OwXBU7DW2TXD8eB4WPy8vbsZXo8n3z1_G55OR5Ur1IyU1hcoyoQVtGoIF5ZKqqcSyIbxulLalqhnHUIFiDDOmhAZaa64Em5YS2GHxadBdLKcd1FVOKdrWLKLrbFyZYJ3Z9Xg3N7Pw27CSCyVwFvjwKBDD3RJSbzqXKmhb6yEskyGcqrKkUqmMvvsLvQ257lyeoesW5tYz_UzNbAvG-Sbkf6u1qDlnJROlykVn6vQfVN41dK4KHhqX7TsBJ0NAFUNKEZptjQSb9fzNev5mmH-m3_7Zli37NO0MfByAufO1vXf_UXszwJARaOwW5jm9TW5fB7910fXuuS3XWUUQQhjGdKNINkeJNaHZJHYfXBlB2QNIkdEs</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2407663539</pqid></control><display><type>article</type><title>Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome</title><source>Wiley Online Library Open Access</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><source>PubMed Central Open Access</source><creator>El-Eshmawy, Mervat M. ; Yahia, Sohier ; El-Dahtory, Faeza A. ; Hamed, Sahar ; El Hadidy, El Hadidy M. ; Ragab, Mohamed</creator><contributor>Li, Biaoru ; Biaoru Li</contributor><creatorcontrib>El-Eshmawy, Mervat M. ; Yahia, Sohier ; El-Dahtory, Faeza A. ; Hamed, Sahar ; El Hadidy, El Hadidy M. ; Ragab, Mohamed ; Li, Biaoru ; Biaoru Li</creatorcontrib><description>Background. The presence of Y chromosome material in Turner’s syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients.</description><identifier>ISSN: 2090-3154</identifier><identifier>ISSN: 2090-3162</identifier><identifier>EISSN: 2090-3162</identifier><identifier>DOI: 10.1155/2013/463529</identifier><identifier>PMID: 23984076</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Limiteds</publisher><subject>Amenorrhea ; Cardiovascular disease ; Congenital diseases ; Cytogenetics ; Deoxyribonucleic acid ; Diagnosis ; DNA ; Females ; Genetic aspects ; Identification and classification ; Karyotypes ; Mosaicism ; Polymerase chain reaction ; Risk factors ; Sex chromosomes ; Turner syndrome ; Uterus ; Y chromosome ; Y chromosomes</subject><ispartof>Genetics Research International, 2013-01, Vol.2013 (2013), p.48-52</ispartof><rights>Copyright © 2013 Mervat M. El-Eshmawy et al.</rights><rights>COPYRIGHT 2013 John Wiley & Sons, Inc.</rights><rights>Copyright © 2013 Mervat M. El-Eshmawy et al. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright © 2013 Mervat M. El-Eshmawy et al. 2013</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-a488t-8692eca35952ff10524628b606f14df89a78d340ece833033859e2d94853b76e3</cites><orcidid>0000-0002-6847-6553</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745850/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745850/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23984076$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Li, Biaoru</contributor><contributor>Biaoru Li</contributor><creatorcontrib>El-Eshmawy, Mervat M.</creatorcontrib><creatorcontrib>Yahia, Sohier</creatorcontrib><creatorcontrib>El-Dahtory, Faeza A.</creatorcontrib><creatorcontrib>Hamed, Sahar</creatorcontrib><creatorcontrib>El Hadidy, El Hadidy M.</creatorcontrib><creatorcontrib>Ragab, Mohamed</creatorcontrib><title>Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome</title><title>Genetics Research International</title><addtitle>Genet Res Int</addtitle><description>Background. The presence of Y chromosome material in Turner’s syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients.</description><subject>Amenorrhea</subject><subject>Cardiovascular disease</subject><subject>Congenital diseases</subject><subject>Cytogenetics</subject><subject>Deoxyribonucleic acid</subject><subject>Diagnosis</subject><subject>DNA</subject><subject>Females</subject><subject>Genetic aspects</subject><subject>Identification and classification</subject><subject>Karyotypes</subject><subject>Mosaicism</subject><subject>Polymerase chain reaction</subject><subject>Risk factors</subject><subject>Sex chromosomes</subject><subject>Turner syndrome</subject><subject>Uterus</subject><subject>Y chromosome</subject><subject>Y chromosomes</subject><issn>2090-3154</issn><issn>2090-3162</issn><issn>2090-3162</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>RHX</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkU1vEzEQhleIilZtT5xBljiAqNL6e-0LUhW1FBREJcqBk-Xsziaudu3U3lDl39fJtilBSNgH2zPPvJ6PonhN8CkhQpxRTNgZl0xQ_aI4oFjjESOSvtzeBd8vjlO6xXlJLKTQr4p9yrTiuJQHxeTK1TV49AuN5zF0IYUO0LeQrKtc6pDziCt0MVstemc9ura9A98ndO_6ObpZRg_xfUI_Vr7OwXBU7DW2TXD8eB4WPy8vbsZXo8n3z1_G55OR5Ur1IyU1hcoyoQVtGoIF5ZKqqcSyIbxulLalqhnHUIFiDDOmhAZaa64Em5YS2GHxadBdLKcd1FVOKdrWLKLrbFyZYJ3Z9Xg3N7Pw27CSCyVwFvjwKBDD3RJSbzqXKmhb6yEskyGcqrKkUqmMvvsLvQ257lyeoesW5tYz_UzNbAvG-Sbkf6u1qDlnJROlykVn6vQfVN41dK4KHhqX7TsBJ0NAFUNKEZptjQSb9fzNev5mmH-m3_7Zli37NO0MfByAufO1vXf_UXszwJARaOwW5jm9TW5fB7910fXuuS3XWUUQQhjGdKNINkeJNaHZJHYfXBlB2QNIkdEs</recordid><startdate>20130101</startdate><enddate>20130101</enddate><creator>El-Eshmawy, Mervat M.</creator><creator>Yahia, Sohier</creator><creator>El-Dahtory, Faeza A.</creator><creator>Hamed, Sahar</creator><creator>El Hadidy, El Hadidy M.</creator><creator>Ragab, Mohamed</creator><general>Hindawi Limiteds</general><general>Hindawi Puplishing Corporation</general><general>Hindawi Publishing Corporation</general><general>John Wiley & Sons, Inc</general><general>Hindawi Limited</general><scope>188</scope><scope>ADJCN</scope><scope>AHFXO</scope><scope>RHU</scope><scope>RHW</scope><scope>RHX</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-6847-6553</orcidid></search><sort><creationdate>20130101</creationdate><title>Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome</title><author>El-Eshmawy, Mervat M. ; Yahia, Sohier ; El-Dahtory, Faeza A. ; Hamed, Sahar ; El Hadidy, El Hadidy M. ; Ragab, Mohamed</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-a488t-8692eca35952ff10524628b606f14df89a78d340ece833033859e2d94853b76e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Amenorrhea</topic><topic>Cardiovascular disease</topic><topic>Congenital diseases</topic><topic>Cytogenetics</topic><topic>Deoxyribonucleic acid</topic><topic>Diagnosis</topic><topic>DNA</topic><topic>Females</topic><topic>Genetic aspects</topic><topic>Identification and classification</topic><topic>Karyotypes</topic><topic>Mosaicism</topic><topic>Polymerase chain reaction</topic><topic>Risk factors</topic><topic>Sex chromosomes</topic><topic>Turner syndrome</topic><topic>Uterus</topic><topic>Y chromosome</topic><topic>Y chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>El-Eshmawy, Mervat M.</creatorcontrib><creatorcontrib>Yahia, Sohier</creatorcontrib><creatorcontrib>El-Dahtory, Faeza A.</creatorcontrib><creatorcontrib>Hamed, Sahar</creatorcontrib><creatorcontrib>El Hadidy, El Hadidy M.</creatorcontrib><creatorcontrib>Ragab, Mohamed</creatorcontrib><collection>Airiti Library</collection><collection>الدوريات العلمية والإحصائية - e-Marefa Academic and Statistical Periodicals</collection><collection>معرفة - المحتوى العربي الأكاديمي المتكامل - e-Marefa Academic Complete</collection><collection>Hindawi Publishing Complete</collection><collection>Hindawi Publishing Subscription Journals</collection><collection>Hindawi Publishing Open Access</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics Research International</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>El-Eshmawy, Mervat M.</au><au>Yahia, Sohier</au><au>El-Dahtory, Faeza A.</au><au>Hamed, Sahar</au><au>El Hadidy, El Hadidy M.</au><au>Ragab, Mohamed</au><au>Li, Biaoru</au><au>Biaoru Li</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome</atitle><jtitle>Genetics Research International</jtitle><addtitle>Genet Res Int</addtitle><date>2013-01-01</date><risdate>2013</risdate><volume>2013</volume><issue>2013</issue><spage>48</spage><epage>52</epage><pages>48-52</pages><issn>2090-3154</issn><issn>2090-3162</issn><eissn>2090-3162</eissn><abstract>Background. The presence of Y chromosome material in Turner’s syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients.</abstract><cop>Cairo, Egypt</cop><pub>Hindawi Limiteds</pub><pmid>23984076</pmid><doi>10.1155/2013/463529</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-6847-6553</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Amenorrhea Cardiovascular disease Congenital diseases Cytogenetics Deoxyribonucleic acid Diagnosis DNA Females Genetic aspects Identification and classification Karyotypes Mosaicism Polymerase chain reaction Risk factors Sex chromosomes Turner syndrome Uterus Y chromosome Y chromosomes |
| title | Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome |
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