Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature

Table 1 Comparison of commonly observed symptomatology in the literature with that of our proband

Clinical features of the proband	Presence/absence	Cases in the literature[6], %
Age at testing	12 yr old	< 16 yr old
Developmental delay	Present	100
Hypotonia in infancy	Present	100
Spasticity	Present	59[9]
Seizures	Absent	56
IPO or constipation	Absent	76[9]
Speech delay and regression	Present	84
Genital abnormality	Absent	68
History of recurrent infections	Absent	83
Neuroimaging, electroencephalography	Not performed	Available
Duplicate region and size	563.70 kb	200 kb to 2.2 Mb
Inheritance	Maternal	Maternal, few de novo
Family history	Present	Present

IPO: Intestinal pseudo-obstruction.