Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients. The authors from different reference ce...
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Veröffentlicht in: | Genetics Research 2019-03, Vol.101 (e3), p.e3-e3, Article e3 |
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creator | Mackay, Deborah J G Bliek, Jet Lombardi, Maria Paola Russo, Silvia Calzari, Luciano Guzzetti, Sara Izzi, Claudia Selicorni, Angelo Melis, Daniela Temple, Karen Maher, Eamonn Brioude, Frédéric Netchine, Irène Eggermann, Thomas |
description | Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in respect to the clinical diagnosis. These patients clinically do not fit the characteristic phenotypes of SRS or BWS, but illustrate their clinical heterogeneity. Thus, comprehensive molecular testing is essential for accurate diagnosis and appropriate management, to avoid premature clinical diagnosis and anxiety for the families. |
doi_str_mv | 10.1017/S001667231900003X |
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Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in respect to the clinical diagnosis. These patients clinically do not fit the characteristic phenotypes of SRS or BWS, but illustrate their clinical heterogeneity. Thus, comprehensive molecular testing is essential for accurate diagnosis and appropriate management, to avoid premature clinical diagnosis and anxiety for the families.</description><subject>Beckwith-Wiedemann Syndrome - diagnosis</subject><subject>Beckwith-Wiedemann Syndrome - genetics</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>DNA Methylation</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic Testing</subject><subject>Genetics</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Phenotype</subject><subject>Short Paper</subject><subject>Silver-Russell Syndrome - diagnosis</subject><subject>Silver-Russell Syndrome - genetics</subject><issn>0016-6723</issn><issn>1469-5073</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplUc9PFDEUboxGVvAP4GLmKIfRvrYznV5MEERMNiERjJ5oup23bKHTWduZJfz3dFwgor289n0_mvc-QvaBfgAK8uM5pVDXknFQNB_-6wWZgahVWVHJX5LZBJcTvkPepHSdn5w28jXZyYUpUGxGLo9dshHXJgxF13u0ozexMKEtrHfBWeOL1pmr0CdMhQvFZ7Q3t25YlT8dttiZEP6Qz53fYCy_jymh90W6C23sO0x75NXS-IRvH-ou-XHy5eLotJyfff12dDgvrVBqKCvLOGuBN7IxhmIjAIGy2toKGtpihUrWCyZqWrfLfKXSorWLhgEIA1xZvks-bX3X46LD1mIYovF6HV1n4p3ujdPPkeBW-qrfaEmFUJJmg4Otweof2enhXE89ymjdgOAbyNz3D5_F_veIadBdXmKe2wTsx6QZNFJVkouJCluqjX1KEZdP3kD1lKH-L8Oseff3LE-Kx9D4PbRPl6w</recordid><startdate>20190304</startdate><enddate>20190304</enddate><creator>Mackay, Deborah J G</creator><creator>Bliek, Jet</creator><creator>Lombardi, Maria Paola</creator><creator>Russo, Silvia</creator><creator>Calzari, Luciano</creator><creator>Guzzetti, Sara</creator><creator>Izzi, Claudia</creator><creator>Selicorni, Angelo</creator><creator>Melis, Daniela</creator><creator>Temple, Karen</creator><creator>Maher, Eamonn</creator><creator>Brioude, Frédéric</creator><creator>Netchine, Irène</creator><creator>Eggermann, Thomas</creator><general>Cambridge University Press (CUP)</general><general>Cambridge University Press</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><scope>1XC</scope><scope>VOOES</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8419-0264</orcidid></search><sort><creationdate>20190304</creationdate><title>Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes</title><author>Mackay, Deborah J G ; Bliek, Jet ; Lombardi, Maria Paola ; Russo, Silvia ; Calzari, Luciano ; Guzzetti, Sara ; Izzi, Claudia ; Selicorni, Angelo ; Melis, Daniela ; Temple, Karen ; Maher, Eamonn ; Brioude, Frédéric ; Netchine, Irène ; Eggermann, Thomas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c499t-5c232d13878aa0e841e1026cc5180de5e976b24606df97607ceccb82114a139c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Beckwith-Wiedemann Syndrome - diagnosis</topic><topic>Beckwith-Wiedemann Syndrome - genetics</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>DNA Methylation</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genetic Testing</topic><topic>Genetics</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Phenotype</topic><topic>Short Paper</topic><topic>Silver-Russell Syndrome - diagnosis</topic><topic>Silver-Russell Syndrome - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Mackay, Deborah J G</creatorcontrib><creatorcontrib>Bliek, Jet</creatorcontrib><creatorcontrib>Lombardi, Maria Paola</creatorcontrib><creatorcontrib>Russo, Silvia</creatorcontrib><creatorcontrib>Calzari, Luciano</creatorcontrib><creatorcontrib>Guzzetti, Sara</creatorcontrib><creatorcontrib>Izzi, Claudia</creatorcontrib><creatorcontrib>Selicorni, Angelo</creatorcontrib><creatorcontrib>Melis, Daniela</creatorcontrib><creatorcontrib>Temple, Karen</creatorcontrib><creatorcontrib>Maher, Eamonn</creatorcontrib><creatorcontrib>Brioude, Frédéric</creatorcontrib><creatorcontrib>Netchine, Irène</creatorcontrib><creatorcontrib>Eggermann, Thomas</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><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics Research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mackay, Deborah J G</au><au>Bliek, Jet</au><au>Lombardi, Maria Paola</au><au>Russo, Silvia</au><au>Calzari, Luciano</au><au>Guzzetti, Sara</au><au>Izzi, Claudia</au><au>Selicorni, Angelo</au><au>Melis, Daniela</au><au>Temple, Karen</au><au>Maher, Eamonn</au><au>Brioude, Frédéric</au><au>Netchine, Irène</au><au>Eggermann, Thomas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes</atitle><jtitle>Genetics Research</jtitle><addtitle>Genet Res (Camb)</addtitle><date>2019-03-04</date><risdate>2019</risdate><volume>101</volume><issue>e3</issue><spage>e3</spage><epage>e3</epage><pages>e3-e3</pages><artnum>e3</artnum><issn>0016-6723</issn><eissn>1469-5073</eissn><abstract>Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. 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subjects | Beckwith-Wiedemann Syndrome - diagnosis Beckwith-Wiedemann Syndrome - genetics Chromosomes, Human, Pair 11 - genetics DNA Methylation Genetic Predisposition to Disease - genetics Genetic Testing Genetics Human genetics Humans Life Sciences Phenotype Short Paper Silver-Russell Syndrome - diagnosis Silver-Russell Syndrome - genetics |
title | Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
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