mosaic trisomy 10
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.
MONDO:0700017
chromosome 10 disorder
is_a
MONDO:0700065
trisomy
is_a
Mosaic trisomy chromosome 10
exact
Mosaic trisomy type 10
exact
chromosome 10, uniparental disomy
related
mosaic trisomy 10
exact
trisomy 10 mosaicism
exact
uniparental disomy of 10
related