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proximal chromosome 18q deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proximal chromosome 18q deletion syndrome

MONDO:0700118

Also known as:proximal 18q deletionproximal 18q deletion syndromeproximal 18q-

Overview

Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.

Patient Orgs1 organizations · Chromosome 18 Registry & Research Society

ResearchLimited published research (2 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 proximal chromosome 18q deletion syndrome.

2 publications have been identified in PubMed for proximal chromosome 18q deletion syndrome. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Dardas Z (2025). [PMID: 39256534](https://pubmed.ncbi.nlm.nih.gov/39256534/). *European journal of human genetics : EJHG*. [Case Report / Case Series]
Allegri B (2025). [PMID: 40001201](https://pubmed.ncbi.nlm.nih.gov/40001201/). *Italian journal of pediatrics*. [Epidemiology / Natural History]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 9:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Chromosome 18 Registry & Research SocietyPrimary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:10866

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Chromosome 18 Registry & Research Society and other patient organizations for support?

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proximal chromosome 18q deletion syndrome

Overview

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team