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Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for mosaic variegated aneuploidy syndrome.
10 publications have been identified in PubMed for mosaic variegated aneuploidy syndrome. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (30%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 4 | 40% |
Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 3:03 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies
3 |
30% |
Research summaries | 2 | 20% |
Disease patterns and progression | 1 | 10% |
Viudes CP (2026). [PMID: 41700350](https://pubmed.ncbi.nlm.nih.gov/41700350/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]
Frattini A (2025). [PMID: 39392177](https://pubmed.ncbi.nlm.nih.gov/39392177/). *American journal of medical genetics. Part A*. [Basic Science / Preclinical]
Pun R (2025). [PMID: 40055864](https://pubmed.ncbi.nlm.nih.gov/40055864/). *Journal of the American Heart Association*. [Case Report / Case Series]
Qu J (2025). [PMID: 40555658](https://pubmed.ncbi.nlm.nih.gov/40555658/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Case Report / Case Series]
Norppa AJ (2025). [PMID: 39761998](https://pubmed.ncbi.nlm.nih.gov/39761998/). *RNA (New York, N.Y.)*. [Review / Meta-Analysis]
Powell-Rodgers G (2024). [PMID: 39149385](https://pubmed.ncbi.nlm.nih.gov/39149385/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Sukla S (2024). [PMID: 38699879](https://pubmed.ncbi.nlm.nih.gov/38699879/). *Proteins*. [Basic Science / Preclinical]
Esposito M (2024). [PMID: 38664248](https://pubmed.ncbi.nlm.nih.gov/38664248/). *International journal of legal medicine*. [Basic Science / Preclinical]
Nakano Y (2024). [PMID: 39264246](https://pubmed.ncbi.nlm.nih.gov/39264246/). *Clinical cancer research : an official journal of the American Association for Cancer Research*. [Epidemiology / Natural History]
Malumbres M (2024). [PMID: 39169218](https://pubmed.ncbi.nlm.nih.gov/39169218/). *Nature reviews. Genetics*. [Review / Meta-Analysis]