Table 2 Comparison of the phenotypic features of the proband with patients showing 3p26 deletion
Paper | [4] | [18] | [20] | [21] | [19] | [17] | Present Study |
|---|---|---|---|---|---|---|---|
Patient reference | Patient 1 | Patient 1 | Patient 2 | Family F | Patient 1 | Patient 1 | Patient 1 |
Size of deletion, Mb | 4,5 | 1,5 | 1,05 | 2,95 | 7,4 | 2,9 | 2,9 |
Inheritance | De novo | Paternal | Maternal balanced translocation | ? | ? | Maternal | Maternal balanced translocation |
Age at diagnosis, years | 16 | 9 | 24 | 14 | prenatal | 1 and 2 months | 2 |
Gender | M | M | M | M | F | M | F |
Birth height, cm | 71 | 123 | 58 | 140 | NA | 48 | 52 |
Birth weight, g | 2695 | 2600 | 5350 | 3400 | 295 | 3000 | 3500 |
Current height | NA | NA | -2SD | NA | NA | Â | +1,05DS |
Current weight | NA | NA | -2SD | NA | NA |  | + 0,6DS |
Cranio-facial dysmorphism | + | NA | + | + | + | + | + |
Upward palpebral fissures | NA | NA | NA | + | NA | NA | + |
Hypertelorism | + | NA | NA | NA | + | NA | + |
Blepharophimosis | + | NA | NA | NA | NA | NA | NA |
Eyelid | + | + | NA | NA | NA | NA | NA |
Broad nasal bridge | + | NA | + | + | + | + | + |
Micrognathia | + | NA | NA | NA | + | NA | Â |
Low-set-ears | + | NA | + | + | + | NA | – |
Short philtrum | – | NA | + | + | + | NA | + |
Limb abnormalities | – | – | – | bilateral clinodactyly of the fifth finger | NA | NA | + |
Ptosis | + | + | NA | NA | + | NA | – |
Microcephaly | + | + | + | + | brachycephaly | + | + |
Neurological features Hypotonia | + | + | + |  | NA | NA | – |
Delayed mental development | + | + | + | + | NA | – | – |
Delayed motor development | NA | NA | + | + | NA | NA | – |
Abnormal behavior | NA | NA | NA | Hysterical and aggressive | NA | NA | + |
Brain imaging results | A | Centrotemporal spikes in the left hemisphere | Corpus callosum hypoplasia | NA | NA | Corpus callosum dysgenesis | Corpus Callosum Hypoplasia |