Xq27.3q28 duplication syndrome
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
MONDO:0017010
partial duplication of the long arm of chromosome X
is_a
Xq27.3-q28 microduplication syndrome
exact
chromosome xq27.3-q28 duplication syndrome, X-linked recessive
exact
dup(X)(q27.3q28)
exact
trisomy Xq27.3-q28
exact
trisomy Xq27.3q28
exact