Table 1 Comparison of the phenotypic features in patients with 4p deletion
Paper | Flipsen-ten Berg et al. (2007) [37] | Chen et al. (2011) [38] | Sifakis et al. (2012) [39] | Malvestiti et al. (2013) [40] | Venegas-Vega et al. (2013) [41] | Present study | |
|---|---|---|---|---|---|---|---|
Patient reference | Patient 1 | Patient 1 | Patient 1 | Patient 1 | Patient 1 | Patient 1 | Patient 2 |
Size of deletion, Mb | 8.3 | 6.5 | 14.7 | 6.29 | 6.48 | 3.4 | 4.8 |
Deleted region | 4pter-p16.1 | 4p16.3-p16.1 | 4p15.33-pter | 4p16.3 | 4p16.1-p16.3 | 4p16.3 | 4p15.3–16.2 |
Age at diagnosis, years | 1 and 2 months | Prenatal | Prenatal | Prenatal | 9 and 9 months | 1 | 2 days |
Gender | M | M | M | M | M | M | M |
Cranio-facial dismorphism | − | + | + | + | + | + | + |
Growth retardation | + | + | + | + | NA | + | + |
Microcephaly | + | NA | NA | NA | + | + | + |
Neurological features hypotonia | + | + | NA | + | + | + | − |
Hypertelorism | + | + | NA | NA | NA | − | + |
Delayed mental development | + | + | NA | NA | + | − | − |
Delayed motor development | + | NA | NA | NA | + | + | − |
Hypospadias | + | + | NA | NA | NA | − | + |
Cryptorchidism | + | NA | NA | + | NA | − | + |