Table 2. Clinical description of the MR patients with a MECP2 duplication.
| Family | A | B | C | D | E | F | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient | III-7 | III-9 | II-7 | III-1 | III-2 | III-5 | II-1 | II-2 | II-1 | II-1 | II-2 | II-2 | II-3 | This report n/N | Literature n/Na | Total (%) |
| Main | ||||||||||||||||
| Age of last examination (years) | 14 | 7 | 15 | 18 | 10 | 6 | 23 | 23 | 8 | 11 | 8 | 9 | 6 | |||
| Moderate to severe MR | + | + | + | + | + | + | + | + | + | + | + | + | + | 13/13 | 63/63 | 100 |
| Infantile hypotonia | + | + | + | + | + | + | + | + | + | + | + | + | + | 13/13 | 57/57 | 100 |
| Age of walking (years) | 3.3 | 2.5 | 2.5 | 2.5 | 2 | ND | 2 | 2 | 4 | 3 | 3 | 6 | 3 | |||
| Absent speech | + | − | + | + | + | + | + | + | + | + | − | + | − | 10/13 | 35/42 | 82 |
| Progressive spasticity | + | + | + | − | − | − | + | − | − | − | − | + | + | 6/13 | 19/22 | 71 |
| Recurrent infections | − | − | − | − | − | − | + | − | + | − | − | + | − | 3/13 | 47/58 | 70 |
| Seizures | + | − | + | + | + | − | + | − | − | + | − | + | − | 7/13 | 29/58 | 51 |
| Ataxia/ataxic gait | + | + | + | + | + | + | + | + | ND | + | ND | ND | ND | 10/10 | − | − |
| MRI abnormalities | + | ND | + | + | + | ND | ND | ND | + | − | − | + | + | 6/8 | 2/3 | − |
| Death at <25 years of age | − | − | − | − | − | − | − | − | − | − | − | + | − | 1/13 | 19/37 | 40 |
| Facial abnormalities | ||||||||||||||||
| Microcephaly | − | − | − | − | − | − | − | − | − | − | − | + | − | 1/13 | 22/58 | 32 |
| Macrocephaly | − | − | − | − | − | − | + | + | − | − | − | − | − | 2/13 | 0/58 | 3 |
| Brachycephaly | − | − | − | − | − | − | − | − | + | − | − | + | + | 3/13 | 13/38 | 31 |
| Large ears | + | + | + | + | + | + | + | + | − | − | − | + | + | 10/13 | 13/38 | 45 |
| Flat midface | + | + | − | − | − | − | + | + | − | − | − | + | + | 6/13 | 11/35 | 35 |
| Broad nasal root | − | − | + | + | + | + | − | − | − | + | + | + | + | 8/13 | 7/38 | 29 |
| Hypertelorism | − | − | − | − | − | − | − | − | − | − | − | + | + | 2/13 | 6/35 | 17 |
| Other congenital abnormalities | ||||||||||||||||
| Swallowing problems | − | − | + | − | + | − | − | − | − | − | − | + | − | 3/13 | 16/19 | 59 |
| Genital abnormalities | + | − | − | − | − | − | − | − | − | − | − | − | − | 1/13 | 24/38 | 49 |
| Digital abnormalities | − | − | + | + | + | + | − | − | + | − | - | + | − | 6/13 | 16/38 | 43 |
a
2–8,10.
ND=not determined.