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Cited by 312Genomic variations and chromosomal abnormalitiesImmunodeficiency and Autoimmune DisordersDown syndrome and intellectual disability research

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

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Fung, Wai Lun Alan, Butcher, Nancy J., Costain, Gregory, Andrade, Danielle M., Boot, Erik, Chow, Eva W.C., Chung, Brian, Cytrynbaum, Cheryl +12 more·2015·Genetics in Medicine
DOI 10.1038/gim.2014.175PMC PMC4526275
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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.

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Authors
Fung, W. L. A., Butcher, N. J., Costain, G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., García-Miñaúr, S., George, S., Lang, A. E., Repetto, G., Shugar, A., Silversides, C., Swillen, A., van Amelsvoort, T., McDonald-McGinn, D. M., & Bassett, A. S.
Affiliations
  • University Health Network (CA)
  • Centre for Addiction and Mental Health (CA)
  • University of Hong Kong (HK)
  • Hospital for Sick Children (CA)
  • Mount Sinai Hospital (CA)
  • University of Toronto (CA)
  • Clínica Alemana (CL)
  • Universitair Ziekenhuis Leuven (BE)
Corresponding author
Bassett, Anne S.
ORCID
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2015-08
Volume
17
Issue
8
Pages
599-609
ISSN
1098-3600 (ISSN-L)
DOI
10.1038/gim.2014.175
PMC
PMC4526275
OpenAlex
W2125734713
Cited by
312
References
2
Citations by year
2026: 7 · 2025: 16 · 2024: 19 · 2023: 33 · 2022: 38 · 2021: 34 · 2020: 24 · 2019: 21 · 2018: 59 · 2017: 31 · 2016: 16 · 2015: 13
FWCI
5.02
Type
journal article
Language
en
Open access
Licence
Locations
  • Genetics in Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • Research Publications (Maastricht University) (publishedVersion, other-oa)
  • Pure Amsterdam UMC (publishedVersion)
  • PubMed Central (acceptedVersion)
  • Lirias (KU Leuven) (submittedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
  • The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
  • Research Publications (Maastricht University) (submittedVersion, other-oa)
Funders
  • Fondation Brain Canada
  • Canada Research Chairs
  • Canadian Institutes of Health Research (MOP #111238, MOP #97800, 111238, 97800, 107520_1)
  • National Institute of Mental Health (U01MH101723)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords
22q11.2 deletion syndrome, neuropsychiatric disorders, endocrine disorders, cardiovascular disease, reproductive health, psychosocial problems, genetic counseling, surveillance (medicine), congenital malformations, developmental delay
MeSH terms
Adult, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Female, Genetic Testing, Humans, Male, Practice Guidelines as Topic

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