Synonyms: Mosaic trisomy chromosome 12 | Trisomy 12 mosaicism
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.
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 12?
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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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