Table 2 Major clinical findings for all three reported patients
From: MECP2 duplication phenotype in symptomatic females: report of three further cases
| Â | Case 1 (14Â years) | Case 2 (21Â years) | Case 3 (19Â years) |
|---|---|---|---|
| Â | - two spontaneous abortions | - male twin: facial dysmorphism severe early delay; death at 18Â months of age | Â |
| Â | - one maternal uncle with ID | - one brother: facial dysmorphism severe developmental delay, seizures, autistic features, death at 23Â years of age | Â |
Physical data | |||
(at birth) | Â | Â | Â |
GW | 40 | 39 | 40 |
L (cm) | 49 (50 pc) | Not known | 51 (50 pc) |
BW (g) | 2400 (10 pc) | 3000 (50 pc) | 3780 (75 pc) |
HC (cm) | 36 (50 pc) | Not known35 | (50 pc) |
Early development | |||
Walking (months) | 18 | 13 | 15 |
Speech onset (years) | 5 (few words) → 12 (fair) | 4 | 3 |
Behaviour | Difficulty of separation and isolation | Hyperactivity | Tantrum |
School age | |||
Neurological condition | Normal | Normal | Normal |
Learning | Difficulties | Difficulties | Difficulties |
Intelligence | Moderate (IQ 41) | Borderline (IQ NA) | Borderline (IQ 80 when 6Â years) |
Communication/social conduct | Difficulties | Good | Difficulties (since 3Â years) |
Behaviour | Quiet and withdrawn | Hyperactivity, attention deficit, impulsiveness | Hyperactivity |
Adolescence | |||
Neurological condition | Â | Â | Â |
Motor coordination | Fair | Poor | Fair |
Hypotonia/joint laxity | Yes | Yes | Yes |
Intelligence | Scarce (IQ NA) | Borderline (IQ 84 when15 years) | Mild (IQ 57 when17 years) |
Communication/social conduct | Difficulties | Difficulties | Difficulties |
Behaviour | Quiet and meek | Hyperactive, anxious, mood disorder | Anxious, depressive mood |
Dysmorphic features | Minor facial dymorphisms (broad nasal bridge, prognatism, mild ocular hypertelorism) | Minor facial dysmorphisms (broad nasal bridge, prognatism) | None |
Diagnostics | |||
EEG | Normal | NA | Posterior slow waves |
MRI | Normal | NA | Normal |