Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. The disease is MONDO_0010467 (Xq27.3q28 duplication syndrome). Also known as: Xq27.3-q28 microduplication syndrome, chromosome xq27.3-q28 duplication syndrome, X-linked recessive, dup(X)(q27.3q28), trisomy Xq27.3-q28, trisomy Xq27.3q28.