Catalog

8q duplication

No MMS code

Link to WHO Definition

8q duplication – http://id.who.int/icd/entity/573390171

Trisomy 8q is a very rare chromosomal anomaly characterised 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.