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chromosome 17q21.31 duplication syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 17q21.31 duplication syndrome

MONDO:0013298

Also known as:17q21.31 microduplication syndromedup(17)(q21.31)trisomy 17q21.31

Overview

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.

ResearchLimited published research (1 article)

Prognosis

Estimated prevalence: 1-9 in 1,000,000 (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 chromosome 17q21.31 duplication syndrome.

1 publication has been identified in PubMed for chromosome 17q21.31 duplication syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

Paprocka J (2024). [PMID: 38837855](https://pubmed.ncbi.nlm.nih.gov/38837855/). *Epilepsia open*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613533

Orphanet

European rare disease database

Orphanet:217340

GARD

Genetic and Rare Diseases Info Center

GARD:17121

Questions for Your Care Team

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chromosome 17q21.31 duplication syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team