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Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Show simple item record Fung, Wai Lun Butcher, Nancy Costain, Gregory Andrade, Danielle Boot, Erik Chow, Eva Chung, Brian Cytrynbaum, Cheryl Faghfoury, Hanna Fishman, Leona García-Miñaúr, Sixto George, Susan Lang, Anthony Repetto, Gabriela Shugar, Andrea Silversides, Candice Swillen, Ann Van Amelsvoort, Therese McDonald-McGinn, Donna Bassett, Anne 2016-05-19T17:44:34Z 2016-05-19T17:44:34Z 2015
dc.identifier.citation Genetics in Medicine, August 2015, vol.17, n°8, p.599–609 es_CL
dc.identifier.uri es_CL
dc.description Centro de Genética y Genómica es_CL
dc.description.abstract 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. es_CL
dc.language.iso en_US es_CL
dc.publisher Macmillan Publishers Limited es_CL
dc.subject 22q11.2 deletion es_CL
dc.subject Clinical practice guidelines es_CL
dc.subject DiGeorge syndrome es_CL
dc.subject Treatment es_CL
dc.subject Velocardiofacial syndrome es_CL
dc.title Practical guidelines for managing adults with 22q11.2 deletion syndrome. es_CL
dc.type Artículo es_CL

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