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

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dc.contributor.authorFung, Wai Lun
dc.contributor.authorButcher, Nancy
dc.contributor.authorCostain, Gregory
dc.contributor.authorAndrade, Danielle
dc.contributor.authorBoot, Erik
dc.contributor.authorChow, Eva
dc.contributor.authorChung, Brian
dc.contributor.authorCytrynbaum, Cheryl
dc.contributor.authorFaghfoury, Hanna
dc.contributor.authorFishman, Leona
dc.contributor.authorGarcía-Miñaúr, Sixto
dc.contributor.authorGeorge, Susan
dc.contributor.authorLang, Anthony
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorShugar, Andrea
dc.contributor.authorSilversides, Candice
dc.contributor.authorSwillen, Ann
dc.contributor.authorVan Amelsvoort, Therese
dc.contributor.authorMcDonald-McGinn, Donna
dc.contributor.authorBassett, Anne
dc.date.accessioned2016-05-19T17:44:34Z
dc.date.available2016-05-19T17:44:34Z
dc.date.issued2015
dc.descriptionCentro de Genética y Genómica
dc.description.abstract22q11.2 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.
dc.identifier.citationFung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015 Aug;17(8):599-609
dc.identifier.urihttp://hdl.handle.net/11447/288
dc.identifier.urihttp://dx.doi.org/10.1038/gim.2014.175
dc.language.isoen_US
dc.publisherMacmillan Publishers Limited
dc.subject22q11.2 deletion
dc.subjectClinical practice guidelines
dc.subjectDiGeorge syndrome
dc.subjectTreatment
dc.subjectVelocardiofacial syndrome
dc.titlePractical guidelines for managing adults with 22q11.2 deletion syndrome.
dc.typeArtículo

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