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duplication/inversion 15q11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

duplication/inversion 15q11

MONDO:0018027

Also known as:Duplication/inversion type 15q11Inv dup(15)Invdup(15)

Overview

Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.

ResearchLimited published research (6 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 very common findings: Autistic behavior, Generalized hypotonia, Joint hypermobility, and Drooling; and common findings: Motor stereotypy, Hyperactivity, Seizure, and Severe expressive language delay and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Autistic behavior, Seizure, Aggressive behavior

Prognosis

Phenotype severity distribution: 4 very common features, 9 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 duplication/inversion 15q11.

6 publications have been identified in PubMed for duplication/inversion 15q11. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Chen CP (2026). [PMID: 41813403](https://pubmed.ncbi.nlm.nih.gov/41813403/). *Taiwanese journal of obstetrics & gynecology*. [Case Report / Case Series]
Francoeur ER (2025). [PMID: 40777336](https://pubmed.ncbi.nlm.nih.gov/40777336/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Fernandez-Luna L (2025). [PMID: 39722459](https://pubmed.ncbi.nlm.nih.gov/39722459/). *HGG advances*. [Basic Science / Preclinical]
Mottola F (2025). [PMID: 40313645](https://pubmed.ncbi.nlm.nih.gov/40313645/). *Case reports in medicine*. [Case Report / Case Series]
Sylvester AL (2025). [PMID: 40490701](https://pubmed.ncbi.nlm.nih.gov/40490701/). *Journal of neurodevelopmental disorders*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3306

GARD

Genetic and Rare Diseases Info Center

GARD:5153

Questions for Your Care Team

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duplication/inversion 15q11

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

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