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partial trisomy of the long arm of chromosome 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial trisomy of the long arm of chromosome 20

MONDO:0016970

Also known as:partial duplication of chromosome 20qpartial duplication of the long arm of chromosome 20partial trisomy of chromosome 20q

Overview

ResearchLimited published research (8 articles)

Diagnosis

Biomarker and diagnostic research for partial trisomy of the long arm of chromosome 20 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 trisomy of the long arm of chromosome 20.

8 publications have been identified in PubMed for partial trisomy of the long arm of chromosome 20. Research spans Case Report / Case Series (63%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (13%).

Recent Publications

Murakami M (2026). [PMID: 42220627](https://pubmed.ncbi.nlm.nih.gov/42220627/). *Rheumatol Adv Pract*. [Case Report / Case Series]
Guazzo R (2025). [PMID: 39708522](https://pubmed.ncbi.nlm.nih.gov/39708522/). *Pathol Res Pract*. [Case Report / Case Series]
Ghatanatti J (2025). [PMID: 39944420](https://pubmed.ncbi.nlm.nih.gov/39944420/). *Cureus*. [Case Report / Case Series]
Yang H (2025). [PMID: 40310457](https://pubmed.ncbi.nlm.nih.gov/40310457/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Wei Q (2024). [PMID: 39766092](https://pubmed.ncbi.nlm.nih.gov/39766092/). *Cancers (Basel)*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 12:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262995

GARD

Genetic and Rare Diseases Info Center

GARD:20890

Questions for Your Care Team

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partial trisomy of the long arm of chromosome 20

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team