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Mosaic trisomy 10

MONDO:0019868

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 occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.

Also known as: Mosaic trisomy chromosome 10, Mosaic trisomy type 10, mosaic trisomy 10, trisomy 10 mosaicism, chromosome 10, uniparental disomy, uniparental disomy of 10

2 clinical trials for this condition and its sub-types, 0 tagged with Mosaic trisomy 10 itself.

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