trisomy 8q https://www.malacards.org/card/trisomy_8q Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size. MESH:C538020 UMLS:C0795829 MEDGEN:162775 NCIT:C36428 MONDO:0015772 GARD:0005362 Duplication 8q 8q duplication trisomy type 8q partial trisomy 8q icd11.foundation:573390171 8q trisomy chromosome 8q duplication Orphanet:1752 partial duplication of the long arm of chromosome 8