22q11.2 Deletion Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 11 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
The 22q11.2 deletion syndrome: Genetic mechanisms, clinical manifestations, and therapeutic strategies.
Yang Shaozhe et al. — Clinica chimica acta; international journal of clinical chemistry (15 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41690495/
- 2.
The role of tight junction proteins in the pathogenesis of schizophrenia.
Yulia Sukhorukova et al. — European archives of psychiatry and clinical neuroscience (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41014348/
- 3.
EEG power spectral and microstate analyses in the 22q11.2 deletion syndrome: from genetic risk to schizophrenia.
Mohayyaei Monir et al. — Journal of neural transmission (Vienna, Austria : 1996) (24 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41874714/
- 4.
Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.
de León Reyes Noelia S et al. — Cell reports (20 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41863797/
- 5.
DiGeorge for the Otolaryngologist: A State-of-the-Art Review.
Hack Sholem et al. — Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery (9 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41800660/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)
Completed — Phase 2 — Harmony Biosciences Management, Inc.
https://clinicaltrials.gov/study/NCT05149898
- 2.
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
Completed — Natera, Inc.
https://clinicaltrials.gov/study/NCT02381457
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome, caused by a small deletion on chromosome 22. It affects the heart, immune system, palate, and development. It is also the most common genetic cause of schizophrenia. Lifelong multidisciplinary management is needed.
Most Recent Research
The 22q11.2 Deletion Syndrome (22q11.2DS) is a multisystem genetic disorder caused by the deletion of a specific region on the long arm of chromosome 22, characterized by remarkable clinical heterogeneity. This review provides a comprehensive overview of the genetic basis and molecular mechanisms underlying 22q11.2DS, highlighting its diverse clinical manifestations including neurodevelopmental disorders, immunodeficiency, and cardiovascular anomalies. Current diagnostic approaches, particularly the advances in gene detection technologies, are discussed alongside evolving individualized therapeutic strategies. Emphasis is placed on elucidating the pathophysiological pathways contributing to the syndrome's complex phenotype and on integrating recent research findings to enhance clinical management. By synthesizing the latest evidence, this article aims to support improved diagnosis, treatment, and guide future research directions in 22q11.2DS.
Common Questions
What is 22q11.2 Deletion Syndrome?
22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome, caused by a small deletion on chromosome 22. It affects the heart, immune system, palate, and development. It is also the most common genetic cause of schizophrenia. Lifelong multidisciplinary management is needed.
How many clinical trials are available for 22q11.2 Deletion Syndrome?
RareWays currently indexes 34 clinical trials for 22q11.2 Deletion Syndrome, of which 10 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for 22q11.2 Deletion Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.