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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Practical guidelines for managing adults with 22q11.2 deletion syndrome</title><author><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Butcher, Nancy J" sort="Butcher, Nancy J" uniqKey="Butcher N" first="Nancy J." last="Butcher">Nancy J. Butcher</name><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Costain, Gregory" sort="Costain, Gregory" uniqKey="Costain G" first="Gregory" last="Costain">Gregory Costain</name><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M." last="Andrade">Danielle M. Andrade</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Department of Nuclear Medicine, Academic Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Chow, Eva W C" sort="Chow, Eva W C" uniqKey="Chow E" first="Eva W. C." last="Chow">Eva W. C. Chow</name><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Chung, Brian" sort="Chung, Brian" uniqKey="Chung B" first="Brian" last="Chung">Brian Chung</name><affiliation><nlm:aff id="A8">Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</nlm:aff></affiliation></author><author><name sortKey="Cytrynbaum, Cheryl" sort="Cytrynbaum, Cheryl" uniqKey="Cytrynbaum C" first="Cheryl" last="Cytrynbaum">Cheryl Cytrynbaum</name><affiliation><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Faghfoury, Hanna" sort="Faghfoury, Hanna" uniqKey="Faghfoury H" first="Hanna" last="Faghfoury">Hanna Faghfoury</name><affiliation><nlm:aff id="A10">The Fred A. Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Fishman, Leona" sort="Fishman, Leona" uniqKey="Fishman L" first="Leona" last="Fishman">Leona Fishman</name><affiliation><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Garcia Mi Aur, Sixto" sort="Garcia Mi Aur, Sixto" uniqKey="Garcia Mi Aur S" first="Sixto" last="García-Mi Aúr">Sixto García-Mi Aúr</name><affiliation><nlm:aff id="A11">Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="George, Susan" sort="George, Susan" uniqKey="George S" first="Susan" last="George">Susan George</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Department of Pharmacology, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><nlm:aff id="A6">Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A14">The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Repetto, Gabriela" sort="Repetto, Gabriela" uniqKey="Repetto G" first="Gabriela" last="Repetto">Gabriela Repetto</name><affiliation><nlm:aff id="A15">Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile</nlm:aff></affiliation></author><author><name sortKey="Shugar, Andrea" sort="Shugar, Andrea" uniqKey="Shugar A" first="Andrea" last="Shugar">Andrea Shugar</name><affiliation><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Silversides, Candice" sort="Silversides, Candice" uniqKey="Silversides C" first="Candice" last="Silversides">Candice Silversides</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name><affiliation><nlm:aff id="A18">Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Amelsvoort, Therese" sort="Van Amelsvoort, Therese" uniqKey="Van Amelsvoort T" first="Therese" last="Van Amelsvoort">Therese Van Amelsvoort</name><affiliation><nlm:aff id="A20">Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mcdonald Mcginn, Donna M" sort="Mcdonald Mcginn, Donna M" uniqKey="Mcdonald Mcginn D" first="Donna M." last="Mcdonald-Mcginn">Donna M. Mcdonald-Mcginn</name><affiliation><nlm:aff id="A21">Division of Human Genetics, 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25569435</idno><idno type="pmc">4526275</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526275</idno><idno type="RBID">PMC:4526275</idno><idno type="doi">10.1038/gim.2014.175</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000915</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000915</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Practical guidelines for managing adults with 22q11.2 deletion syndrome</title><author><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Butcher, Nancy J" sort="Butcher, Nancy J" uniqKey="Butcher N" first="Nancy J." last="Butcher">Nancy J. Butcher</name><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Costain, Gregory" sort="Costain, Gregory" uniqKey="Costain G" first="Gregory" last="Costain">Gregory Costain</name><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M." last="Andrade">Danielle M. Andrade</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Department of Nuclear Medicine, Academic Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Chow, Eva W C" sort="Chow, Eva W C" uniqKey="Chow E" first="Eva W. C." last="Chow">Eva W. C. Chow</name><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Chung, Brian" sort="Chung, Brian" uniqKey="Chung B" first="Brian" last="Chung">Brian Chung</name><affiliation><nlm:aff id="A8">Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</nlm:aff></affiliation></author><author><name sortKey="Cytrynbaum, Cheryl" sort="Cytrynbaum, Cheryl" uniqKey="Cytrynbaum C" first="Cheryl" last="Cytrynbaum">Cheryl Cytrynbaum</name><affiliation><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Faghfoury, Hanna" sort="Faghfoury, Hanna" uniqKey="Faghfoury H" first="Hanna" last="Faghfoury">Hanna Faghfoury</name><affiliation><nlm:aff id="A10">The Fred A. Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Fishman, Leona" sort="Fishman, Leona" uniqKey="Fishman L" first="Leona" last="Fishman">Leona Fishman</name><affiliation><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Garcia Mi Aur, Sixto" sort="Garcia Mi Aur, Sixto" uniqKey="Garcia Mi Aur S" first="Sixto" last="García-Mi Aúr">Sixto García-Mi Aúr</name><affiliation><nlm:aff id="A11">Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="George, Susan" sort="George, Susan" uniqKey="George S" first="Susan" last="George">Susan George</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Department of Pharmacology, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><nlm:aff id="A6">Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A14">The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Repetto, Gabriela" sort="Repetto, Gabriela" uniqKey="Repetto G" first="Gabriela" last="Repetto">Gabriela Repetto</name><affiliation><nlm:aff id="A15">Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile</nlm:aff></affiliation></author><author><name sortKey="Shugar, Andrea" sort="Shugar, Andrea" uniqKey="Shugar A" first="Andrea" last="Shugar">Andrea Shugar</name><affiliation><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Silversides, Candice" sort="Silversides, Candice" uniqKey="Silversides C" first="Candice" last="Silversides">Candice Silversides</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name><affiliation><nlm:aff id="A18">Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders, Belgium</nlm:aff></affiliation></author><author><name sortKey="Van Amelsvoort, Therese" sort="Van Amelsvoort, Therese" uniqKey="Van Amelsvoort T" first="Therese" last="Van Amelsvoort">Therese Van Amelsvoort</name><affiliation><nlm:aff id="A20">Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mcdonald Mcginn, Donna M" sort="Mcdonald Mcginn, Donna M" uniqKey="Mcdonald Mcginn D" first="Donna M." last="Mcdonald-Mcginn">Donna M. Mcdonald-Mcginn</name><affiliation><nlm:aff id="A21">Division of Human Genetics, 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><affiliation><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff></affiliation></author></analytic><series><title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title><idno type="ISSN">1098-3600</idno><idno type="eISSN">1530-0366</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9815831</journal-id><journal-id journal-id-type="pubmed-jr-id">22061</journal-id><journal-id journal-id-type="nlm-ta">Genet Med</journal-id><journal-id journal-id-type="iso-abbrev">Genet. Med.</journal-id><journal-title-group><journal-title>Genetics in medicine : official journal of the American College of Medical Genetics</journal-title></journal-title-group><issn pub-type="ppub">1098-3600</issn><issn pub-type="epub">1530-0366</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25569435</article-id><article-id pub-id-type="pmc">4526275</article-id><article-id pub-id-type="doi">10.1038/gim.2014.175</article-id><article-id pub-id-type="manuscript">CAMS4695</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Practical guidelines for managing adults with 22q11.2 deletion syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Fung</surname><given-names>Wai Lun Alan</given-names></name><degrees>MD, ScD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Butcher</surname><given-names>Nancy J.</given-names></name><degrees>MSc</degrees><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Costain</surname><given-names>Gregory</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Andrade</surname><given-names>Danielle M.</given-names></name><degrees>MD, MSc</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Boot</surname><given-names>Erik</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Chow</surname><given-names>Eva W.C.</given-names></name><degrees>MD, FRCPC</degrees><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Chung</surname><given-names>Brian</given-names></name><degrees>MRCPCH, MBBS</degrees><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Cytrynbaum</surname><given-names>Cheryl</given-names></name><degrees>MS, CGC</degrees><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Faghfoury</surname><given-names>Hanna</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Fishman</surname><given-names>Leona</given-names></name><degrees>MD, FRCPC</degrees><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>García-Miñaúr</surname><given-names>Sixto</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>George</surname><given-names>Susan</given-names></name><degrees>MD, FRCPC</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Lang</surname><given-names>Anthony E.</given-names></name><degrees>MD, FRCPC</degrees><xref ref-type="aff" rid="A6">6</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Repetto</surname><given-names>Gabriela</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Shugar</surname><given-names>Andrea</given-names></name><degrees>MS, CGC</degrees><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Silversides</surname><given-names>Candice</given-names></name><degrees>MD, FRCPC</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A16">16</xref><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Swillen</surname><given-names>Ann</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A18">18</xref><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>van Amelsvoort</surname><given-names>Therese</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>McDonald-McGinn</surname><given-names>Donna M.</given-names></name><degrees>MS, CGC</degrees><xref ref-type="aff" rid="A21">21</xref><xref ref-type="aff" rid="A22">22</xref><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Bassett</surname><given-names>Anne S.</given-names></name><degrees>MD, FRCPC</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A17">17</xref></contrib></contrib-group><aff id="A1"><label>1</label>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</aff><aff id="A2"><label>2</label>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</aff><aff id="A3"><label>3</label>Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</aff><aff id="A4"><label>4</label>Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</aff><aff id="A5"><label>5</label>Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</aff><aff id="A6"><label>6</label>Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</aff><aff id="A7"><label>7</label>Department of Nuclear Medicine, Academic Medical Center, Amsterdam, The Netherlands</aff><aff id="A8"><label>8</label>Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</aff><aff id="A9"><label>9</label>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</aff><aff id="A10"><label>10</label>The Fred A. Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada</aff><aff id="A11"><label>11</label>Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain</aff><aff id="A12"><label>12</label>Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</aff><aff id="A13"><label>13</label>Department of Pharmacology, University of Toronto, Toronto, Ontario, Canada</aff><aff id="A14"><label>14</label>The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, Toronto, Ontario, Canada</aff><aff id="A15"><label>15</label>Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile</aff><aff id="A16"><label>16</label>Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario, Canada</aff><aff id="A17"><label>17</label>Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</aff><aff id="A18"><label>18</label>Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders, Belgium</aff><aff id="A19"><label>19</label>Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders, Belgium</aff><aff id="A20"><label>20</label>Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands</aff><aff id="A21"><label>21</label>Division of Human Genetics, 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</aff><aff id="A22"><label>22</label>Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</aff><aff id="A23"><label>23</label>Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff><author-notes><corresp id="FN1">Correspondence: Anne S. Bassett (<email>anne.bassett@utoronto.ca</email>)</corresp><fn id="FN2" fn-type="equal"><p>The first three authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>4</day><month>6</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>08</day><month>1</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>8</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>05</day><month>8</month><year>2015</year></pub-date><volume>17</volume><issue>8</issue><fpage>599</fpage><lpage>609</lpage><pmc-comment>elocation-id from pubmed: 10.1038/gim.2014.175</pmc-comment>
<abstract><p id="P1">22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.</p></abstract><kwd-group><kwd>22q11.2 deletion</kwd><kwd>clinical practice guidelines</kwd><kwd>DiGeorge syndrome</kwd><kwd>treatment</kwd><kwd>velocardiofacial syndrome</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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