Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

partial deletion of the long arm of chromosome 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of the long arm of chromosome 14

MONDO:0016912

Also known as:partial deletion of chromosome 14qpartial deletion of the long arm of chromosome type 14partial monosomy of chromosome 14q

Overview

Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.

ResearchLimited published research (7 articles)

Diagnosis

Biomarker and diagnostic research for partial deletion of the long arm of chromosome 14 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 long arm of chromosome 14.

7 publications have been identified in PubMed for partial deletion of the long arm of chromosome 14. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Nakae K (2026). [PMID: 41983542](https://pubmed.ncbi.nlm.nih.gov/41983542/). *Congenit Anom (Kyoto)*. [Case Report / Case Series]
Vincent KM (2025). [PMID: 40180153](https://pubmed.ncbi.nlm.nih.gov/40180153/). *Eur J Med Genet*. [Review / Meta-Analysis]
Umekawa M (2025). [PMID: 41239509](https://pubmed.ncbi.nlm.nih.gov/41239509/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]
Kahr J (2025). [PMID: 39969396](https://pubmed.ncbi.nlm.nih.gov/39969396/). *Clin Neuropathol*. [Case Report / Case Series]
Huang M (2024). [PMID: 38729327](https://pubmed.ncbi.nlm.nih.gov/38729327/). *Cell Signal*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262110

GARD

Genetic and Rare Diseases Info Center

GARD:3722

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

partial deletion of the long arm of chromosome 14

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team