Table 2 Comparison of clinical symptoms in Xq28 duplication syndrome
From: Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
MECP2 duplication syndrome | K/L-mediated Xq28 duplication syndrome | Int22h1/Int22h-2-mediated Xq28 duplication syndrome | Our case | |
|---|---|---|---|---|
Progressive spasticity of lower legs | 7/14 | 6/15 | 2/13 | (+) |
Epilepsy | 10/14 | 4/15 | 0/13 | (+) |
Cranial and brain abnormality | 7/14 | 11/15 | 2/13 | (+) |
Recurrent infection | 5/14 | 2/15 | 10/13 | (+) |
Development delay | 14/14 | 15/15 | 13/13 | (+) |
Intellectual disability | Severe | Mild–moderate | Mild–moderate | Mild–moderate |
Behavioral and autistic problems | 2/14 | 1/15 | 9/13 | (+) |