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Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for mosaic trisomy 15.
3 publications have been identified in PubMed for mosaic trisomy 15. Research spans Case Report / Case Series (100%).
Li X (2025). [PMID: 41213756](https://pubmed.ncbi.nlm.nih.gov/41213756/). *Taiwanese journal of obstetrics & gynecology*. [Case Report / Case Series]
Lee Curtis D (2025). [PMID: 40761536](https://pubmed.ncbi.nlm.nih.gov/40761536/). *Case reports in genetics*. [Case Report / Case Series]
Forey PL (2024). [PMID: 38923613](https://pubmed.ncbi.nlm.nih.gov/38923613/). *Prenatal diagnosis*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 12:12 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center