Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

mosaic trisomy 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 16

MONDO:0015729

Also known as:Mosaic trisomy chromosome 16Mosaic trisomy type 16trisomy 16 mosaicism

Overview

Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.

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 16.

9 publications have been identified in PubMed for mosaic trisomy 16. Research spans Case Report / Case Series (75%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (13%).

Recent Publications

Panchenko E (2025). [PMID: 40943441](https://pubmed.ncbi.nlm.nih.gov/40943441/). *Int J Mol Sci*. [Case Report / Case Series]
Mukamel EA (2025). [PMID: 40907475](https://pubmed.ncbi.nlm.nih.gov/40907475/). *Neuron*. [Basic Science / Preclinical]
Xia C (2025). [PMID: 40075865](https://pubmed.ncbi.nlm.nih.gov/40075865/). *Diagnostics (Basel)*. [Case Report / Case Series]
Lou S (2025). [PMID: 39856011](https://pubmed.ncbi.nlm.nih.gov/39856011/). *Prenat Diagn*. [Epidemiology / Natural History]
Tamaru H (2025). [PMID: 41317128](https://pubmed.ncbi.nlm.nih.gov/41317128/). *Congenit Anom (Kyoto)*. [Case Report / Case Series]
Murry JB (2025). [PMID: 40725393](https://pubmed.ncbi.nlm.nih.gov/40725393/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1708

GARD

Genetic and Rare Diseases Info Center

GARD:18741

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

mosaic trisomy 16

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team