Title: Practical guidelines for managing adults with 22q11.2 deletion syndrome
Authors: Fung, Wai Lun Alan
Butcher, Nancy J
Costain, Gregory
Andrade, Danielle M
Boot, Erik
Chow, Eva W C
Chung, Brian
Cytrynbaum, Cheryl
Faghfoury, Hanna
Fishman, Leona
García-Miñaúr, Sixto
George, Susan
Lang, Anthony E
Repetto, Gabriela
Shugar, Andrea
Silversides, Candice
Swillen, Ann
van Amelsvoort, Therese
McDonald-McGinn, Donna M
Bassett, Anne S # ×
Issue Date: Aug-2015
Publisher: Williams & Wilkins
Series Title: Genetics in Medicine vol:17 issue:8 pages:599-609
Article number: 10.1038/gim.2014.175
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 advance online publication 08 January 2015Genetics in Medicine (2014); doi:10.1038/gim.2014.175.
ISSN: 1098-3600
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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