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mosaic trisomy 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 17

MONDO:0015730

Also known as:Mosaic trisomy chromosome 17Mosaic trisomy type 17trisomy 17 mosaicism

Overview

Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.

ResearchLimited published research (6 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 17.

6 publications have been identified in PubMed for mosaic trisomy 17. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (33%), and Basic Science / Preclinical (17%).

Recent Publications

Chen CP (2026). [PMID: 41813400](https://pubmed.ncbi.nlm.nih.gov/41813400/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Harada Y (2026). [PMID: 41709511](https://pubmed.ncbi.nlm.nih.gov/41709511/). *Clin Exp Reprod Med*. [Epidemiology / Natural History]
García-de-Teresa B (2026). [PMID: 42265143](https://pubmed.ncbi.nlm.nih.gov/42265143/). *NPJ Genom Med*. [Case Report / Case Series]
Mukamel EA (2025). [PMID: 40907475](https://pubmed.ncbi.nlm.nih.gov/40907475/). *Neuron*. [Basic Science / Preclinical]
Jo HC (2025). [PMID: 40935465](https://pubmed.ncbi.nlm.nih.gov/40935465/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1711

GARD

Genetic and Rare Diseases Info Center

GARD:5317

Questions for Your Care Team

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mosaic trisomy 17

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team