Table 1.
A summary of genetic and clinical features of symptomatic female patients with MECP2 duplication reported so far in literature and including the three cases reported herein (Group A: patients with small interstitial Xq28 duplication, Group B: Xq28 duplication due to X;autosome translocations)
| Group A | Group B | ||
|---|---|---|---|
| Age |
|
7-21 years |
18 months-19 years |
| Genetic features |
|
|
|
| Duplicate segment length |
|
107.5 Kb-700 Kb |
0.29 Kb-16.6 Mb (for two cases the size is unknown but cytogenetic visible) |
| Inheritance |
de novo |
4 |
8 |
| |
Maternal |
5 |
0 |
| |
Unknown |
0 |
1 |
| XCI |
Random |
6 |
2 |
| |
Skewed |
3 |
1 |
| |
Unknown |
0 |
6 |
| Clinical features |
|
|
|
| Abnormal general conditions |
|
5/9 (55%) |
9/9 (100%) |
| Dysmorphic patterns |
|
3/9 (33%) |
9/9 (100%) |
| Delayed motor development |
|
4/9 (44%) |
9/9 (100%) |
| Abnormal language development |
|
6/9 (67%) |
9/9 (100%) |
| Intellectual disability |
|
7/9 (78%) |
9/9 (100%) |
| Mood and behaviour |
Affected |
4/9 (44%) |
1/9 (11%) |
| |
Unknown |
5/9 (55%) |
8/9 (88%) |
| Social conduct |
Affected |
8/9 (88%) |
0/9 (0%) |
| |
Unknown |
1/9(11%) |
9/9 (100%) |
| Autistic features |
|
4/9 (44%) |
0/9 (0%) |
| Seizures |
|
1/8 (13%) |
3/9 (33%) |
| Brain MRI |
Abnormal |
0/9 (0%) |
3/9 (33%) |
| Unknown | 1/9 (11%) | 6/9 (67%) |
Abnormal general conditions: growth retardation, constipation, hypotonia and/or joint laxity.
Dysmorphic pattern: microcephaly, trigonocephaly, facial dysmorphisms, multiple skeletal and/or organs dysmorphisms.
Language development: either delayed or impaired during school-age and adolescence.
Intellectual disability: Group A: either mild or moderate; Group B: severe only.
Brain-MRI: cortical atrophy along with white matter involvement.