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mosaic trisomy 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 14

MONDO:0015725

Also known as:Mosaic trisomy type 14Mosaic trisomy chromosome 14trisomy 14 mosaicism

Overview

Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.

ResearchLimited published research (8 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 mosaic trisomy 14.

8 publications have been identified in PubMed for mosaic trisomy 14. Research spans Case Report / Case Series (50%), Other (13%), and Review / Meta-Analysis (13%).

Recent Publications

Martineau R (2026). [PMID: 42032740](https://pubmed.ncbi.nlm.nih.gov/42032740/). *Mol Cytogenet*. [Case Report / Case Series]
Koyuncuoglu MA (2025). [PMID: 41078617](https://pubmed.ncbi.nlm.nih.gov/41078617/). *Mol Syndromol*. [Review / Meta-Analysis]
Ludorf KL (2025). [PMID: 40920381](https://pubmed.ncbi.nlm.nih.gov/40920381/). *JAMA Netw Open*. [Epidemiology / Natural History]
Olsen T (2025). [PMID: 39667803](https://pubmed.ncbi.nlm.nih.gov/39667803/). *Clin Genet*. [Case Report / Case Series]
Dyrland M (2025). [PMID: 40671334](https://pubmed.ncbi.nlm.nih.gov/40671334/). *Pediatr Blood Cancer*. [Other]
Drabkin S (2024). [PMID: 39539890](https://pubmed.ncbi.nlm.nih.gov/39539890/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 3:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1703

GARD

Genetic and Rare Diseases Info Center

GARD:1327

Questions for Your Care Team

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mosaic trisomy 14

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team