Table 1 Comparison of 17p segmental duplication clinical features among our case and others previously published
Paper | [22] | [3] | [3] | [3] | [4] | [21] | [21] | [21] | [23] | [7] | [24] | [24] | [24] | Present Study |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient reference | Patient 7 | Patient 1 | Patient 2 | Patient 3 | Patient 10 | Patient 12 | Patient 13 | Patient 15 | Patient 1 | Patient 1 | Patient 1 | Patient 2 | Patient 3 | Patient 1 |
Size of duplication, Mb | 3.6 | 1.8 | 3 | 4 | 2 | 3.4 | 2.78 | 2.16 | 5.7 | 3.9 | 4.2 | 4.2 | 4.2 | 10.5 |
Age at diagnosis, years | 10 | 14 | 1 | 1 | 6.5 | 28 | 1.1 | 14 | 1.4 | 4 | 40 | 39 | 31 | 2.3 |
Gender | F | M | F | M | M | F | M | F | F | M | M | F | F | F |
Birth height, cm | 53 | 53 | NA | 50 | Normal | NA | NA | NA | 55 | 51 | NA | NA | NA | 52 |
Birth weight, g | 3060 | 3350 | 4200 | 3380 | Normal | NA | NA | NA | 2680 | 3200 | 3200 | 2800 | 2700 | 3350 |
Cranio-facial dysmorphism hypotonic face | – | + | + | + | NA | + | + | NA | + | − | NA | NA | NA | + |
High forehead | – | + | + | + | NA | NA | + | NA | + | − | NA | NA | NA | + |
Hypertelorism | – | + | + | + | – | – | – | – | + | − | + | + | + | + |
Broad nasal bridge | – | + | + | + | – | NA | + | NA | + | − | + | + | + | + |
Small mouth | Normal | Normal | + | + | Prominent cupid bow | + | + | + | + | − | + | + | + | + |
Low-set-ears | – | + | + | – | NA | NA | + | NA | + | − | + | + | + | + |
Triangular chin | NA | – | + | + | + | + | + | + | + | − | + | + | + | − |
Neck appearance | Normal | Normal | Short | Short | Normal | NA | NA | NA | NA | − | NA | NA | NA | Short |
Neurological features hypotonia | – | + | + | + | + | NA | – | + | NA | + | + | + | + | − |
Delayed mental development | + | + | + | + | – | LD | Mild LD | Mild LD | + | + | + | + | + | + |
Delayed motor development | + | + | + | + | – | + | NA | + | + | + | + | + | + | + |
Abnormal behavior | + | + | + | + | Autism | + | – | – | − | Autism | − | − | − | − |
Brain imaging results | Reduced brain size, corpus callosum hypoplasia, cerebellar agenesis | Normal | NA | Dilated lateral ventricles/corpus callosum agenesis | NA | NA | Thin corpus callosum, cerebellar vermis hypoplasia | NA | Normal | Polymicrogyria | NA | NA | NA | NA |