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distal trisomy 19q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal trisomy 19q

MONDO:0015744

Also known as:distal duplication 19qdistal trisomy type 19qtelomeric duplication 19q

Overview

Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.

ResearchLimited published research (3 articles)

Prognosis

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 distal trisomy 19q.

3 publications have been identified in PubMed for distal trisomy 19q. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Nguyen MP (2025). [PMID: 40603285](https://pubmed.ncbi.nlm.nih.gov/40603285/). *Nature communications*. [Epidemiology / Natural History]
Chun BM (2025). [PMID: 40377441](https://pubmed.ncbi.nlm.nih.gov/40377441/). *The oncologist*. [Case Report / Case Series]
Vitetta G (2024). [PMID: 38589928](https://pubmed.ncbi.nlm.nih.gov/38589928/). *Molecular cytogenetics*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1717

GARD

Genetic and Rare Diseases Info Center

GARD:18743

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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distal trisomy 19q

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team