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partial duplication of the long arm of chromosome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial duplication of the long arm of chromosome 2

MONDO:0016953

Also known as:partial duplication of chromosome 2qpartial duplication of the long arm of chromosome type 2partial trisomy of chromosome 2q

Overview

Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. 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 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

ResearchLimited published research (3 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 2.

5 publications have been identified in PubMed for partial duplication of the long arm of chromosome 2. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Chen CP (2024). [PMID: 39482002](https://pubmed.ncbi.nlm.nih.gov/39482002/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Xu L (2024). [PMID: 39402511](https://pubmed.ncbi.nlm.nih.gov/39402511/). *BMC Pediatr*. [Review / Meta-Analysis]
Zheng A (2024). [PMID: 39528289](https://pubmed.ncbi.nlm.nih.gov/39528289/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262842

GARD

Genetic and Rare Diseases Info Center

GARD:5340

Questions for Your Care Team

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partial duplication of the long arm of chromosome 2

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team