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Mosaic trisomy 10
rareMosaic 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.
- Identifiers
- MONDO:0019868 Orphanet:96063
- Part of
- Chromosome 10 disorderTrisomy
- Also known as
- chromosome 10, uniparental disomy · Mosaic trisomy chromosome 10 · Mosaic trisomy type 10 · trisomy 10 mosaicism · uniparental disomy of 10
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