Table 3. Incidence of MECP2 duplications in males with MR selected by different criteria.
| Selection criteria | Number of male patients | Number of MECP2 duplications | Frequency (%) | Reference |
|---|---|---|---|---|
| Phenotype | ||||
| MR and spasticity | 17 | 3 | 17.6 | Van Esch et al2 |
| Severe encephalopathy | 134 | 3 | 2.2 | This study |
| MECP2 testinga | 122 | 2 | 1.6 | Gaudio et al4 |
| Chromosomal imbalancesb | 1380 | 5 | 0.4 | Del Gaudio et al4 |
| Genotype | ||||
| Linkage to Xq28 | 17 | 2 | 11 | Friez et al5 |
| X-linked inheritance | 283 | 3 | 1.1 | This study |
a
Patients sent to a diagnostic centre for MECP2 mutation screening; no further information was disclosed by the authors.
b
Males and females screened using a targeted microarray for disease relevant regions for deletions and duplications.