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

Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 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 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics
  • DiGeorge Syndrome / therapy*
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Practice Guidelines as Topic

Supplementary concepts

  • Chromosome 22, microdeletion 22 q11