Fung, Wai LunButcher, NancyCostain, GregoryAndrade, DanielleBoot, ErikChow, EvaChung, BrianCytrynbaum, CherylFaghfoury, HannaFishman, LeonaGarcía-Miñaúr, SixtoGeorge, SusanLang, AnthonyRepetto, GabrielaShugar, AndreaSilversides, CandiceSwillen, AnnVan Amelsvoort, ThereseMcDonald-McGinn, DonnaBassett, Anne2016-05-192016-05-192015Fung 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):599-609http://hdl.handle.net/11447/288http://dx.doi.org/10.1038/gim.2014.175Centro de Genética y Genómica22q11.2 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.en-US22q11.2 deletionClinical practice guidelinesDiGeorge syndromeTreatmentVelocardiofacial syndromeArtículo