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mosaic trisomy 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 18

MONDO:0700031

Overview

Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.

Diagnosis

Biomarker and diagnostic research for mosaic trisomy 18 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mosaic trisomy 18.

10 publications have been identified in PubMed for mosaic trisomy 18. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (30%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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mosaic trisomy 18

Overview

Diagnosis

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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