11p15.4 microduplication syndrome
11p15.4 microduplication syndrome
Definition
11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
Also known as dup(11)p(15.4), trisomy 11p15.4 — per MONDO