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mosaic trisomy 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 12

MONDO:0015718

Also known as:Mosaic trisomy chromosome 12Mosaic trisomy type 12trisomy 12 mosaicism

Overview

Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.

ResearchLimited published research (4 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 12.

4 publications have been identified in PubMed for mosaic trisomy 12. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

Ludorf KL (2025). [PMID: 40920381](https://pubmed.ncbi.nlm.nih.gov/40920381/). *JAMA network open*. [Epidemiology / Natural History]
Xia C (2025). [PMID: 40075865](https://pubmed.ncbi.nlm.nih.gov/40075865/). *Diagnostics (Basel, Switzerland)*. [Case Report / Case Series]
Chen CP (2025). [PMID: 40602974](https://pubmed.ncbi.nlm.nih.gov/40602974/). *Taiwanese journal of obstetrics & gynecology*. [Case Report / Case Series]
Mbara N (2024). [PMID: 39310502](https://pubmed.ncbi.nlm.nih.gov/39310502/). *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:1698

GARD

Genetic and Rare Diseases Info Center

GARD:5304

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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mosaic trisomy 12

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team