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

ring chromosome 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 22

MONDO:0015438

Also known as:Chromosome 22 RingRing chromosome type 22r(22) syndrome

Overview

Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Azoospermia, Microcephaly, Dolichocephaly, and Long face and others; and sometimes findings: Agenesis of corpus callosum, Absent septum pellucidum, and Pleural effusion.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Inappropriate behavior, Autistic behavior, Delayed speech and language development

Prognosis

Phenotype severity distribution: 30 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 ring chromosome 22.

6 publications have been identified in PubMed for ring chromosome 22. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).

Recent Publications

Chen CP (2025). [PMID: 40049821](https://pubmed.ncbi.nlm.nih.gov/40049821/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Puente Torres MA (2025). [PMID: 41111688](https://pubmed.ncbi.nlm.nih.gov/41111688/). *Cureus*. [Case Report / Case Series]
Paprocka J (2024). [PMID: 38837855](https://pubmed.ncbi.nlm.nih.gov/38837855/). *Epilepsia Open*. [Review / Meta-Analysis]
Asta L (2024). [PMID: 39363263](https://pubmed.ncbi.nlm.nih.gov/39363263/). *J Neurodev Disord*. [Epidemiology / Natural History]
Montanari A (2024). [PMID: 39639321](https://pubmed.ncbi.nlm.nih.gov/39639321/). *Mol Cytogenet*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1446

GARD

Genetic and Rare Diseases Info Center

GARD:1336

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

ring chromosome 22

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features