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mosaic trisomy 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 4

MONDO:0019865

Also known as:Mosaic trisomy chromosome 4Mosaic trisomy type 4trisomy 4 mosaicism

Overview

Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for mosaic trisomy 4 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 4.

5 publications have been identified in PubMed for mosaic trisomy 4. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Chen CP (2025). [PMID: 41213771](https://pubmed.ncbi.nlm.nih.gov/41213771/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Chen CP (2025). [PMID: 41213770](https://pubmed.ncbi.nlm.nih.gov/41213770/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Forey PL (2024). [PMID: 38923613](https://pubmed.ncbi.nlm.nih.gov/38923613/). *Prenat Diagn*. [Review / Meta-Analysis]
Kovaleva NV (2024). [PMID: 38927714](https://pubmed.ncbi.nlm.nih.gov/38927714/). *Genes (Basel)*. [Epidemiology / Natural History]
Cong X (2024). [PMID: 38702634](https://pubmed.ncbi.nlm.nih.gov/38702634/). *BMC Pregnancy Childbirth*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 5:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96059

GARD

Genetic and Rare Diseases Info Center

GARD:19300

Questions for Your Care Team

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mosaic trisomy 4

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team