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mosaic trisomy 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 5

MONDO:0019866

Also known as:Mosaic trisomy chromosome 5Mosaic trisomy type 5trisomy 5 mosaicism

Overview

Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.

ResearchLimited published research (4 articles)

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 5.

4 publications have been identified in PubMed for mosaic trisomy 5. Research spans Review / Meta-Analysis (75%) and Case Report / Case Series (25%).

Recent Publications

Koyuncuoglu MA (2025). [PMID: 41078617](https://pubmed.ncbi.nlm.nih.gov/41078617/). *Mol Syndromol*. [Review / Meta-Analysis]
Belabbes KB (2024). [PMID: 39479571](https://pubmed.ncbi.nlm.nih.gov/39479571/). *Int J Pediatr*. [Review / Meta-Analysis]
Konya M (2024). [PMID: 39499701](https://pubmed.ncbi.nlm.nih.gov/39499701/). *PLoS One*. [Review / Meta-Analysis]
Chen CP (2024). [PMID: 39482006](https://pubmed.ncbi.nlm.nih.gov/39482006/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96060

GARD

Genetic and Rare Diseases Info Center

GARD:19301

Questions for Your Care Team

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mosaic trisomy 5

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team