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

Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W. C. Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto Garcia-Minar, Susan George, Anthony E. Lang, Gabriela Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Therese van Amelsvoort, Donna M. McDonald-McGinn, Anne S. Bassett*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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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.
Original languageEnglish
Pages (from-to)599-609
JournalGenetics in Medicine
Issue number8
Publication statusPublished - Aug 2015


  • 22q11.2 deletion
  • clinical practice guidelines
  • DiGeorge syndrome
  • treatment
  • velocardiofacial syndrome

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