The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)
Abstract With advances in laboratory technology, an increasing number of potentially pathogenic CNVs is recognised. The phenotypic effects of some CNVs are well characterised, however, it remains unclear how much information reaches the parents of affected children and by what route. The 22q11.2 del...
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| Veröffentlicht in: | European journal of medical genetics 2013-08, Vol.56 (8), p.439-441 |
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| container_title | European journal of medical genetics |
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| creator | van den Bree, Marianne B.M Miller, Gregory Mansell, Elizabeth Thapar, Anita Flinter, Frances Owen, Michael J |
| description | Abstract With advances in laboratory technology, an increasing number of potentially pathogenic CNVs is recognised. The phenotypic effects of some CNVs are well characterised, however, it remains unclear how much information reaches the parents of affected children and by what route. The 22q11.2 deletion syndrome (del22q11.2) is caused by the deletion of approximately 40 genes from the long arm of chromosome 22 and was first described in 1955 [1] . Our study reports the extent to which parents of an affected child are aware of the various manifestation of the condition and describes how they first learned about these potential problems. |
| doi_str_mv | 10.1016/j.ejmg.2013.05.001 |
| format | Article |
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The phenotypic effects of some CNVs are well characterised, however, it remains unclear how much information reaches the parents of affected children and by what route. The 22q11.2 deletion syndrome (del22q11.2) is caused by the deletion of approximately 40 genes from the long arm of chromosome 22 and was first described in 1955 [1] . Our study reports the extent to which parents of an affected child are aware of the various manifestation of the condition and describes how they first learned about these potential problems.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2013.05.001</identifier><identifier>PMID: 23707654</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>22q11.2 deletion syndrome ; 22q11.2DS ; DiGeorge Syndrome - psychology ; Genetic Forum ; Health Knowledge, Attitudes, Practice ; Humans ; Information Seeking Behavior ; Internet ; Medical Education ; Parental awareness ; Physical manifestations ; Psychiatric manifestations ; United Kingdom ; Velo-Cardio-Facial syndrome</subject><ispartof>European journal of medical genetics, 2013-08, Vol.56 (8), p.439-441</ispartof><rights>The Authors</rights><rights>2013 The Authors</rights><rights>Copyright © 2013 The Authors. 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The phenotypic effects of some CNVs are well characterised, however, it remains unclear how much information reaches the parents of affected children and by what route. The 22q11.2 deletion syndrome (del22q11.2) is caused by the deletion of approximately 40 genes from the long arm of chromosome 22 and was first described in 1955 [1] . Our study reports the extent to which parents of an affected child are aware of the various manifestation of the condition and describes how they first learned about these potential problems.</description><subject>22q11.2 deletion syndrome</subject><subject>22q11.2DS</subject><subject>DiGeorge Syndrome - psychology</subject><subject>Genetic Forum</subject><subject>Health Knowledge, Attitudes, Practice</subject><subject>Humans</subject><subject>Information Seeking Behavior</subject><subject>Internet</subject><subject>Medical Education</subject><subject>Parental awareness</subject><subject>Physical manifestations</subject><subject>Psychiatric manifestations</subject><subject>United Kingdom</subject><subject>Velo-Cardio-Facial syndrome</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kk1v1DAQhiMEoh_wBzgg32gPCR4nThwJVULlU6rEoeVseSeTrkNib-1spT3w33G6SwUcONnSvPPa7zyTZa-AF8ChfjsUNEy3heBQFlwWnMOT7BhUo3KuqvZpujd1mzcCxFF2EuPAealAtM-zI1E2vKlldZz9vFkTs26m4GhmNrKNCeTm-IZNxjoW_TYgMd8nTe_DZGbrHTMrv53ZJu5wbc0cLCaxsz3F-aEeF70QdwCFYB2N9NAUd64LfiJ2dih9uD5_kT3rzRjp5eE8zb5_-nhz-SW_-vb56-X7qxwl8DmHFKeBtqa6ki0oKXoFKUFXco6dQMk5IYrOkKkUGlIrrLDEqiuhThOo-vI0u9j7brariTpMCYMZ9SbYyYSd9sbqvyvOrvWtv9dlU1UKZDI4OxgEf7dNQfVkI9I4Gkd-GzVUiYJspFJJKvZSDD7GQP3jM8D1wk0PeuGmF26aS524pabXf37wseU3qCR4txdQGtO9paAjWnJInQ2Es-68_b__xT_tOFpn0Yw_aEdxSJhdAqBBR6G5vl42Z1kcSCMG3oryF8_5vsg</recordid><startdate>20130801</startdate><enddate>20130801</enddate><creator>van den Bree, Marianne B.M</creator><creator>Miller, Gregory</creator><creator>Mansell, Elizabeth</creator><creator>Thapar, Anita</creator><creator>Flinter, Frances</creator><creator>Owen, Michael J</creator><general>Elsevier Masson SAS</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</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><scope>5PM</scope></search><sort><creationdate>20130801</creationdate><title>The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)</title><author>van den Bree, Marianne B.M ; Miller, Gregory ; Mansell, Elizabeth ; Thapar, Anita ; Flinter, Frances ; Owen, Michael J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c510t-18497196e64591852f81370d300cd2c500ecc2daea48cae8bc4c3c4d3167694f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>22q11.2 deletion syndrome</topic><topic>22q11.2DS</topic><topic>DiGeorge Syndrome - psychology</topic><topic>Genetic Forum</topic><topic>Health Knowledge, Attitudes, Practice</topic><topic>Humans</topic><topic>Information Seeking Behavior</topic><topic>Internet</topic><topic>Medical Education</topic><topic>Parental awareness</topic><topic>Physical manifestations</topic><topic>Psychiatric manifestations</topic><topic>United Kingdom</topic><topic>Velo-Cardio-Facial syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>van den Bree, Marianne B.M</creatorcontrib><creatorcontrib>Miller, Gregory</creatorcontrib><creatorcontrib>Mansell, Elizabeth</creatorcontrib><creatorcontrib>Thapar, Anita</creatorcontrib><creatorcontrib>Flinter, Frances</creatorcontrib><creatorcontrib>Owen, Michael J</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><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>PubMed Central (Full Participant titles)</collection><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>van den Bree, Marianne B.M</au><au>Miller, Gregory</au><au>Mansell, Elizabeth</au><au>Thapar, Anita</au><au>Flinter, Frances</au><au>Owen, Michael J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2013-08-01</date><risdate>2013</risdate><volume>56</volume><issue>8</issue><spage>439</spage><epage>441</epage><pages>439-441</pages><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Abstract With advances in laboratory technology, an increasing number of potentially pathogenic CNVs is recognised. 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| ispartof | European journal of medical genetics, 2013-08, Vol.56 (8), p.439-441 |
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| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | 22q11.2 deletion syndrome 22q11.2DS DiGeorge Syndrome - psychology Genetic Forum Health Knowledge, Attitudes, Practice Humans Information Seeking Behavior Internet Medical Education Parental awareness Physical manifestations Psychiatric manifestations United Kingdom Velo-Cardio-Facial syndrome |
| title | The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS) |
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