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partial trisomy of the long arm of chromosome 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial trisomy of the long arm of chromosome 5

MONDO:0016956

Also known as:partial duplication of chromosome 5qpartial duplication of the long arm of chromosome 5partial trisomy of chromosome 5q

Overview

Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.

ResearchLimited published research (5 articles)

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 partial trisomy of the long arm of chromosome 5.

5 publications have been identified in PubMed for partial trisomy of the long arm of chromosome 5. Research spans Epidemiology / Natural History (40%), Case Report / Case Series (20%), and Clinical Trial Publication (20%).

Recent Publications

Yang H (2025). [PMID: 40310457](https://pubmed.ncbi.nlm.nih.gov/40310457/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Razmara Lak E (2025). [PMID: 41321974](https://pubmed.ncbi.nlm.nih.gov/41321974/). *International journal of molecular and cellular medicine*. [Clinical Trial Publication]
Wright CA (2025). [PMID: 39924478](https://pubmed.ncbi.nlm.nih.gov/39924478/). *Molecular cytogenetics*. [Case Report / Case Series]
Paprocka J (2024). [PMID: 38837855](https://pubmed.ncbi.nlm.nih.gov/38837855/). *Epilepsia open*. [Epidemiology / Natural History]
Srivastava VM (2024). [PMID: 39334460](https://pubmed.ncbi.nlm.nih.gov/39334460/). *Molecular cytogenetics*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:24 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262869

GARD

Genetic and Rare Diseases Info Center

GARD:5351

Questions for Your Care Team

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partial trisomy of the long arm of chromosome 5

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team