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Biomarker and diagnostic research for mosaic trisomy 1 has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for mosaic trisomy 1.
94 publications have been identified in PubMed for mosaic trisomy 1. Research spans Case Report / Case Series (32%), Diagnostic / Biomarker (24%), and Epidemiology / Natural History (19%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 30 | 32% |
Data assembled from 3 of 12 sources · Last updated Oct 3, 2026, 1:17 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
23 |
24% |
Disease patterns and progression | 18 | 19% |
Laboratory research | 10 | 11% |
Research summaries | 9 | 10% |
Other research | 3 | 3% |
Clinical study results | 1 | 1% |
Heydari A (2026). [PMID: 42082986](https://pubmed.ncbi.nlm.nih.gov/42082986/). *J Med Case Rep*. [Case Report / Case Series]
Raymond Y (2026). [PMID: 41520802](https://pubmed.ncbi.nlm.nih.gov/41520802/). *Am J Obstet Gynecol MFM*. [Diagnostic / Biomarker]
Jao HW (2026). [PMID: 41160205](https://pubmed.ncbi.nlm.nih.gov/41160205/). *J Assist Reprod Genet*. [Case Report / Case Series]
Kónya M (2026). [PMID: 41297782](https://pubmed.ncbi.nlm.nih.gov/41297782/). *Am J Obstet Gynecol*. [Review / Meta-Analysis]
Uchida S (2026). [PMID: 42243550](https://pubmed.ncbi.nlm.nih.gov/42243550/). *J Hum Genet*. [Diagnostic / Biomarker]
Zagorac A (2026). [PMID: 42017141](https://pubmed.ncbi.nlm.nih.gov/42017141/). *Front Genet*. [Case Report / Case Series]
Du C (2026). [PMID: 41559586](https://pubmed.ncbi.nlm.nih.gov/41559586/). *BMC Pregnancy Childbirth*. [Clinical Trial Publication]
Jiang Z (2026). [PMID: 42142393](https://pubmed.ncbi.nlm.nih.gov/42142393/). *Prenat Diagn*. [Epidemiology / Natural History]
Ollivier H (2026). [PMID: 41539549](https://pubmed.ncbi.nlm.nih.gov/41539549/). *J Gynecol Obstet Hum Reprod*. [Diagnostic / Biomarker]
Kunda S (2026). [PMID: 41939616](https://pubmed.ncbi.nlm.nih.gov/41939616/). *Cureus*. [Epidemiology / Natural History]