From: MECP2 duplication phenotype in symptomatic females: report of three further cases
 |  | Group A | Group B |
---|---|---|---|
Age | Â | 7-21Â years | 18Â months-19Â years |
Genetic features | Â | Â | Â |
Duplicate segment length | Â | 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 | Â | Â | Â |
Abnormal general conditions | Â | 5/9 (55%) | 9/9 (100%) |
Dysmorphic patterns | Â | 3/9 (33%) | 9/9 (100%) |
Delayed motor development | Â | 4/9 (44%) | 9/9 (100%) |
Abnormal language development | Â | 6/9 (67%) | 9/9 (100%) |
Intellectual disability | Â | 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 | Â | 4/9 (44%) | 0/9 (0%) |
Seizures | Â | 1/8 (13%) | 3/9 (33%) |
Brain MRI | Abnormal | 0/9 (0%) | 3/9 (33%) |
 | Unknown | 1/9 (11%) | 6/9 (67%) |