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

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.Genet Med 17 8, 599-609.

SUBMITTER: Fung WL

PROVIDER: S-EPMC4526275 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature

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

Fung Wai Lun Alan WL Butcher Nancy J NJ Costain Gregory G Andrade Danielle M DM Boot Erik E Chow Eva W C EW Chung Brian B Cytrynbaum Cheryl C Faghfoury Hanna H Fishman Leona L García-Miñaúr Sixto S George Susan S Lang Anthony E AE Repetto Gabriela G Shugar Andrea A Silversides Candice C Swillen Ann A van Amelsvoort Therese T McDonald-McGinn Donna M DM Bassett Anne S AS

Genetics in medicine : official journal of the American College of Medical Genetics 20150108 8

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 l ...[more]

PMID: 25569435

Dataset Information

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

Publications

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

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