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

Rare Disease

partial duplication of the short arm of chromosome 6

MONDO:0016943

Also known as:partial duplication of chromosome 6ppartial duplication of the short arm of chromosome type 6partial trisomy of chromosome 6p

Overview

Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) 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 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. 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 short arm of chromosome 6.

3 publications have been identified in PubMed for partial duplication of the short arm of chromosome 6. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Vormittag-Nocito E (2025). [PMID: 40239807](https://pubmed.ncbi.nlm.nih.gov/40239807/). *Mod Pathol*. [Basic Science / Preclinical]
Aguayo-Orozco TA (2025). [PMID: 40675132](https://pubmed.ncbi.nlm.nih.gov/40675132/). *Cytogenet Genome Res*. [Case Report / Case Series]
Rizea RE (2024). [PMID: 38855489](https://pubmed.ncbi.nlm.nih.gov/38855489/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262740

GARD

Genetic and Rare Diseases Info Center

GARD:5352

Questions for Your Care Team

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partial duplication of the short arm of chromosome 6

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team