Xq27.3q28 duplication syndrome

Definition

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Also known as chromosome xq27.3-q28 duplication syndrome, X-linked recessive, dup(X)(q27.3q28), trisomy Xq27.3-q28, trisomy Xq27.3q28, Xq27.3-q28 microduplication syndrome — per MONDO

Also identified as

• OMIM 300869 per MONDO
• Orphanet 261483 per MONDO
• UMLS C3275521 per MONDO