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mosaic trisomy 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 9

MONDO:0020490

Also known as:Mosaic trisomy type 9Mosaic trisomy chromosome 9trisomy 9 mosaicism

Overview

Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.

Diagnosis

Biomarker and diagnostic research for mosaic trisomy 9 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 9.

16 publications have been identified in PubMed for mosaic trisomy 9. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Patient case studies	7	47%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99776

GARD

Genetic and Rare Diseases Info Center

GARD:43

Questions for Your Care Team

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mosaic trisomy 9

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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