Mosaic trisomy 10

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Mosaic trisomy 10

Synonyms: Mosaic trisomy chromosome 10 | Trisomy 10 mosaicism

Mosaic trisomy 10 is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by growth delay craniofacial dysmorphism (incl. prominent forehead hypertelorism upslanting palpebral fissures blepharophimosis low-set malformed large ears high arched palate cleft lip/palate retrognathia) and cardiac renal and skeletal (e.g. radial ray defects scoliosis) malformations with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies as well as facial clefts and anal atresia.

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 May 2024

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Mosaic trisomy 10?

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