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Practical guidelines for managing adults with 22q11.2 deletion syndrome
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نویسنده
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Fung Wai Lun Alan ,Butcher Nancy J. ,Costain Gregory ,Andrade Danielle M. ,Boot Erik ,Chow Eva W.C. ,Chung Brian ,Cytrynbaum Cheryl ,Faghfoury Hanna ,Fishman Leona ,García-Miñaúr Sixto ,George Susan ,Lang Anthony E. ,Repetto Gabriela ,Shugar Andrea ,Silversides Candice ,Swillen Ann ,Amelsvoort Therese van ,McDonald-McGinn Donna M. ,Bassett Anne S.
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منبع
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genetics in medicine - 2015 - دوره : 17 - شماره : 8 - صفحه:599 -609
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چکیده
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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.genet med 17 8, 599–609.
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آدرس
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University Health Network, Canada. Centre for Addiction and Mental Health, Canada. University of Toronto, Department of Psychiatry, Canada, Centre for Addiction and Mental Health, Canada. University of Toronto, Canada, Centre for Addiction and Mental Health, Canada. University of Toronto, Canada, University Health Network, Canada. University of Toronto, Division of Neurology, Canada, University Health Network, Canada. Centre for Addiction and Mental Health, Canada. University of Toronto, Department of Psychiatry, Canada. Academic Medical Center, Department of Nuclear Medicine, Netherlands, Centre for Addiction and Mental Health, Canada. University of Toronto, Department of Psychiatry, Canada, The University of Hong Kong, Department of Paediatrics and Adolescent Medicine, China, The Hospital for Sick Children, Canada, University Health Network and Mount Sinai Hospital, Canada, The Hospital for Sick Children, Canada, Universidad Autónoma de Madrid, Spain, University Health Network, Canada. Centre for Addiction and Mental Health, Canada. University of Toronto, Department of Pharmacology, Canada, University of Toronto, Division of Neurology, Canada. Toronto Western Hospital, Canada, Clínica Alemana Universidad del Desarrollo, Chile, The Hospital for Sick Children, Canada, University Health Network, Division of Cardiology, Department of Medicine, Canada. Mount Sinai Hospital, Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Canada, University Hospital Gasthuisberg, Belgium. University of Leuven (KU Leuven), Department of Human Genetics, Belgium, Maastricht University Medical Centre, Department of Psychiatry and Psychology, Netherlands, The Children’s Hospital of Philadelphia, Division of Human Genetics, USA. University of Pennsylvania, Department of Pediatrics, USA, University Health Network, Division of Cardiology, Department of Medicine, Canada. Centre for Addiction and Mental Health, Canada. University of Toronto, Department of Psychiatry, Canada
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Authors
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