partial duplication of the short arm of chromosome 8 trisomy 8p https://www.malacards.org/card/trisomy_8p GARD:0020920 MEDGEN:167072 Orphanet:264450 MONDO:0017013 trisomy type 8p Duplication 8p UMLS:C0795825 MESH:C538019 Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.