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partial monosomy of the short arm of chromosome 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial monosomy of the short arm of chromosome 20

MONDO:0016898

Also known as:Pure partial 20p deletionpartial deletion of chromosome 20ppartial deletion of the short arm of chromosome 20

Overview

ResearchLimited published research (7 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 monosomy of the short arm of chromosome 20.

7 publications have been identified in PubMed for partial monosomy of the short arm of chromosome 20. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (14%), and Basic Science / Preclinical (14%).

Recent Publications

Saakyan SV (2026). [PMID: 41847805](https://pubmed.ncbi.nlm.nih.gov/41847805/). *Vestn Oftalmol*. [Epidemiology / Natural History]
Aliazami F (2026). [PMID: 41715213](https://pubmed.ncbi.nlm.nih.gov/41715213/). *Mol Cytogenet*. [Case Report / Case Series]
Madison A (2025). [PMID: 40229383](https://pubmed.ncbi.nlm.nih.gov/40229383/). *Sci Rep*. [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]
Egawa M (2025). [PMID: 39581190](https://pubmed.ncbi.nlm.nih.gov/39581190/). *Genes Cells*. [Gene Therapy / Novel Therapeutics]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 10:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261992

GARD

Genetic and Rare Diseases Info Center

GARD:20820

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partial monosomy of the short arm of chromosome 20

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team