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partial duplication of the long arm of chromosome 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial duplication of the long arm of chromosome 6

MONDO:0016957

Also known as:partial duplication of chromosome 6qpartial duplication of the long arm of chromosome type 6partial trisomy of chromosome 6q

Overview

Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. 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 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for partial duplication of the long arm of chromosome 6 has been reported in the published literature.

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 6.

5 publications have been identified in PubMed for partial duplication of the long arm of chromosome 6. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Aguayo-Orozco TA (2025). [PMID: 40675132](https://pubmed.ncbi.nlm.nih.gov/40675132/). *Cytogenet Genome Res*. [Case Report / Case Series]
Sekar A (2024). [PMID: 39505849](https://pubmed.ncbi.nlm.nih.gov/39505849/). *Blood Cancer J*. [Epidemiology / Natural History]
Wiedmeier-Nutor JE (2024). [PMID: 39001512](https://pubmed.ncbi.nlm.nih.gov/39001512/). *Cancers (Basel)*. [Diagnostic / Biomarker]
Paprocka J (2024). [PMID: 38837855](https://pubmed.ncbi.nlm.nih.gov/38837855/). *Epilepsia Open*. [Review / Meta-Analysis]
Tanabe H (2024). [PMID: 39632802](https://pubmed.ncbi.nlm.nih.gov/39632802/). *Hum Genome Var*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 12:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262878

GARD

Genetic and Rare Diseases Info Center

GARD:5353

Questions for Your Care Team

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partial duplication of the long arm of chromosome 6

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team