Synonyms: Mosaic trisomy chromosome 15 | Trisomy 15 mosaicism
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Mosaic trisomy 15?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
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