Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
7 publications have been identified in PubMed for tetrasomy X. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Epidemiology / Natural History (29%).
Swenson KS (2026). [PMID: 41190564](https://pubmed.ncbi.nlm.nih.gov/41190564/). *Am J Med Genet A*. [Review / Meta-Analysis]
Marisavljević M (2026). [PMID: 41874017](https://pubmed.ncbi.nlm.nih.gov/41874017/). *Pediatr Rep*. [Case Report / Case Series]
Carl A (2025). [PMID: 39953941](https://pubmed.ncbi.nlm.nih.gov/39953941/). *Am J Med Genet A*. [Epidemiology / Natural History]
Swenson KS (2025). [PMID: 40585069](https://pubmed.ncbi.nlm.nih.gov/40585069/). *medRxiv*. [Review / Meta-Analysis]
Carl A (2024). [PMID: 39185520](https://pubmed.ncbi.nlm.nih.gov/39185520/). *medRxiv*. [Epidemiology / Natural History]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Shimojima Yamamoto K (2024). [PMID: 39152134](https://pubmed.ncbi.nlm.nih.gov/39152134/). *Human genome variation*. [Case Report / Case Series]
Zhang Y (2024). [PMID: 39344625](https://pubmed.ncbi.nlm.nih.gov/39344625/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]