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partial duplication of the short arm of chromosome 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial duplication of the short arm of chromosome 8

MONDO:0016945

Also known as:partial duplication of chromosome 8ppartial duplication of the short arm of chromosome type 8partial trisomy of chromosome 8p

Overview

Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. 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 8p 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)

Diagnosis

Biomarker and diagnostic research for partial duplication of the short arm of chromosome 8 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 short arm of chromosome 8.

3 publications have been identified in PubMed for partial duplication of the short arm of chromosome 8. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Horbacz M (2025). [PMID: 41210864](https://pubmed.ncbi.nlm.nih.gov/41210864/). *Front Med (Lausanne)*. [Diagnostic / Biomarker]
Rizea RE (2024). [PMID: 38855489](https://pubmed.ncbi.nlm.nih.gov/38855489/). *Cureus*. [Case Report / Case Series]
Schuy J (2024). [PMID: 39669604](https://pubmed.ncbi.nlm.nih.gov/39669604/). *Genet Med Open*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262758

GARD

Genetic and Rare Diseases Info Center

GARD:5361

Questions for Your Care Team

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partial duplication of the short arm of chromosome 8

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team