22q11.2 Deletion Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 27 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome.
Hennings Viktoria et al. — Journal of human immunity (6 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42169676/
- 2.
Genetic Syndromes Do Not Affect Survival but Increase Morbidity in Neonates with Symptomatic Tetralogy of Fallot.
Nelson Joanna E et al. — The Journal of pediatrics (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/41812746/
- 3.
Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.
Boen Rune et al. — Molecular psychiatry (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/41720882/
- 4.
Schizophrenic Phenotype and Therapeutic Course Associated With Chromosome 22q11.2 Deletion in a Cohort Without Prior Diagnosis of Chromosome 22q11.2 Deletion Syndrome.
Gawlik Micha et al. — American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/41649368/
- 5.
Dynamic reconfiguration of subunits from the hippocampal-amygdala complex indicate patterns of psychosis vulnerability in 22q11.2 deletion syndrome.
Fusi Laura et al. — Scientific reports (29 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42374122/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
Completed — Natera, Inc.
https://clinicaltrials.gov/study/NCT02381457
- 2.
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
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
22q11.2 deletion syndrome (22q11DS) is associated with congenital anomalies and variable thymic hypoplasia with T cell lymphopenia and immune dysregulation. However, the spatial organization of human thymic lymphopoiesis and stromal mechanisms contributing to thymic dysfunction in 22q11DS remain incompletely defined. We applied spatial transcriptomic and spatial proteomic analyses on thymic samples from two 22q11DS patients and compared them with healthy controls. Across 22q11DS samples, we observed alterations in the corticomedullary organization and in the frequencies of fibroblasts, B cells, regulatory T cells, and mTEC subsets. These features coincided with a prominent remodeling of the mesenchymal compartment, including increased expression of extracellular matrix programs and collagens, and predicted disruption in mesenchymal-epithelial cell crosstalk. In the medulla, we observed alterations in interferon-associated gene programs within a colocalized niche comprising B cells, antigen-presenting cells, and mTEC subsets. Together, this provides an integrated spatial map of the 22q11DS thymus and nominates stromal remodeling as a candidate driver of impaired central tolerance induction in 22q11DS.
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 35 clinical trials for 22q11.2 Deletion Syndrome, of which 11 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.