Catalog

10q24qter duplication

No MMS code

Link to WHO Definition

10q24qter duplication – http://id.who.int/icd/entity/1327297771

Distal trisomy of the long arm of chromosome 10 (10q) is characterised by pre- and postnatal growth retardation, a pattern of specific facial features (flat round face with full cheeks and a large prominent forehead, highly arched eyebrows, short and narrow palpebral fissures (blepharophimosis), widely spaced eyes with telecanthus, a short nose, a bow-shaped mouth with a prominent upper lip, and a small mandible), hypotonia, and developmental and psychomotor delay.