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partial duplication of the long arm of chromosome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial duplication of the long arm of chromosome 3

MONDO:0016954

Also known as:partial duplication of chromosome 3qpartial duplication of the long arm of chromosome type 3partial trisomy of chromosome 3q

Overview

Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. 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 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q 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 duplication of the long arm of chromosome 3.

5 publications have been identified in PubMed for partial duplication of the long arm of chromosome 3. Research spans Review / Meta-Analysis (60%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Hauberg ME (2025). [PMID: 40451420](https://pubmed.ncbi.nlm.nih.gov/40451420/). *Eur J Med Genet*. [Review / Meta-Analysis]
Kouvidi E (2025). [PMID: 40340951](https://pubmed.ncbi.nlm.nih.gov/40340951/). *Cytogenet Genome Res*. [Review / Meta-Analysis]
Tanabe H (2024). [PMID: 39632802](https://pubmed.ncbi.nlm.nih.gov/39632802/). *Hum Genome Var*. [Case Report / Case Series]
Schuy J (2024). [PMID: 39669604](https://pubmed.ncbi.nlm.nih.gov/39669604/). *Genet Med Open*. [Basic Science / Preclinical]
Householder N (2024). [PMID: 39569720](https://pubmed.ncbi.nlm.nih.gov/39569720/). *J Pediatr Ophthalmol Strabismus*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262851

GARD

Genetic and Rare Diseases Info Center

GARD:5345

Questions for Your Care Team

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partial duplication of the long arm of chromosome 3

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team