Mosaic trisomy 3

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Synonyms: Mosaic trisomy chromosome 3 | Trisomy 3 mosaicism

Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity mild facial dysmorphism (e.g. long facies prominent eyes dysplastic ears downturned corners of the mouth micrognathia) and no developmental delays to more severe phenotypes including short stature intellectual disability severe developmental delays additional craniofacial dysmorphic features (e.g. brachycephaly high forehead flat midface short neck) and hearing impairment as well as skeletal (e.g. pectus excavatum scoliosis) ocular (e.g. coloboma) and cardiac abnormalities.

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 Data version July 2024

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Mosaic trisomy 3?

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