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

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dc.contributor.author Fung, Wai Lun
dc.contributor.author Butcher, Nancy
dc.contributor.author Costain, Gregory
dc.contributor.author Andrade, Danielle
dc.contributor.author Boot, Erik
dc.contributor.author Chow, Eva
dc.contributor.author Chung, Brian
dc.contributor.author Cytrynbaum, Cheryl
dc.contributor.author Faghfoury, Hanna
dc.contributor.author Fishman, Leona
dc.contributor.author García-Miñaúr, Sixto
dc.contributor.author George, Susan
dc.contributor.author Lang, Anthony
dc.contributor.author Repetto, Gabriela
dc.contributor.author Shugar, Andrea
dc.contributor.author Silversides, Candice
dc.contributor.author Swillen, Ann
dc.contributor.author Van Amelsvoort, Therese
dc.contributor.author McDonald-McGinn, Donna
dc.contributor.author Bassett, Anne
dc.date.accessioned 2016-05-19T17:44:34Z
dc.date.available 2016-05-19T17:44:34Z
dc.date.issued 2015
dc.identifier.citation Genetics in Medicine, August 2015, vol.17, n°8, p.599–609 es_CL
dc.identifier.uri http://dx.doi.org/10.1038/gim.2014.175 es_CL
dc.identifier.uri http://hdl.handle.net/11447/288
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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