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partial deletion of the short arm of chromosome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of the short arm of chromosome 2

MONDO:0016884

Also known as:partial deletion of chromosome 2ppartial deletion of the short arm of chromosome type 2partial monosomy of chromosome 2p

Overview

OnsetANTENATAL, NEONATAL, CONGENITAL

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for partial deletion of the short arm of chromosome 2 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 deletion of the short arm of chromosome 2.

6 publications have been identified in PubMed for partial deletion of the short arm of chromosome 2. Research spans Diagnostic / Biomarker (20%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Saakyan SV (2026). [PMID: 41847805](https://pubmed.ncbi.nlm.nih.gov/41847805/). *Vestn Oftalmol*. [Epidemiology / Natural History]
Jiang C (2025). [PMID: 40846777](https://pubmed.ncbi.nlm.nih.gov/40846777/). *Theor Appl Genet*. [Basic Science / Preclinical]
Chen CP (2024). [PMID: 39482002](https://pubmed.ncbi.nlm.nih.gov/39482002/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Geng J (2024). [PMID: 39524401](https://pubmed.ncbi.nlm.nih.gov/39524401/). *Transl Pediatr*. [Diagnostic / Biomarker]
Xu T (2024). [PMID: 39058883](https://pubmed.ncbi.nlm.nih.gov/39058883/). *Medicine (Baltimore)*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 1:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261866

GARD

Genetic and Rare Diseases Info Center

GARD:20807

Questions for Your Care Team

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partial deletion of the short arm of chromosome 2

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team