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

Rare Disease

trisomy 5p

MONDO:0015768

Also known as:Chromosome 5, Trisomy 5pDuplication 5pDuplication of the short arm of chromosome 5

Overview

Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.

ResearchLimited published research (5 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 trisomy 5p.

5 publications have been identified in PubMed for trisomy 5p. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (20%).

Recent Publications

Kim GJ (2025). [PMID: 40767403](https://pubmed.ncbi.nlm.nih.gov/40767403/). *Am J Med Genet A*. [Review / Meta-Analysis]
Kırman ÜN (2025). [PMID: 39837287](https://pubmed.ncbi.nlm.nih.gov/39837287/). *Cytogenet Genome Res*. [Case Report / Case Series]
Gomes FC (2025). [PMID: 40959651](https://pubmed.ncbi.nlm.nih.gov/40959651/). *Dement Neuropsychol*. [Basic Science / Preclinical]
Danesino C (2024). [PMID: 39408992](https://pubmed.ncbi.nlm.nih.gov/39408992/). *Int J Mol Sci*. [Case Report / Case Series]
Almeida VT (2024). [PMID: 38679724](https://pubmed.ncbi.nlm.nih.gov/38679724/). *BMC Res Notes*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:04 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1742

GARD

Genetic and Rare Diseases Info Center

GARD:6093

Questions for Your Care Team

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trisomy 5p

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team