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.
MONDO:0016959
partial duplication of the long arm of chromosome 8
is_a
8q duplication
related
8q trisomy
related
Duplication 8q
exact
chromosome 8q duplication
related
partial trisomy 8q
related
trisomy type 8q
exact