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

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

Rare Disease

distal chromosome 18q deletion syndrome

MONDO:0700119

Also known as:distal 18q deletiondistal 18q deletion syndromedistal 18q-

Overview

Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.

ResearchLimited published research (3 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 distal chromosome 18q deletion syndrome.

3 publications have been identified in PubMed for distal chromosome 18q deletion syndrome. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Allegri B (2025). [PMID: 40001201](https://pubmed.ncbi.nlm.nih.gov/40001201/). *Italian journal of pediatrics*. [Epidemiology / Natural History]
Novikova LB (2025). [PMID: 41524374](https://pubmed.ncbi.nlm.nih.gov/41524374/). *Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova*. [Case Report / Case Series]
Hashiguchi S (2024). [PMID: 38896123](https://pubmed.ncbi.nlm.nih.gov/38896123/). *Journal of clinical immunology*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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

distal chromosome 18q deletion syndrome

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team