Table 1 16q22.3 duplication syndrome cases
Patient 1 [6] | Patient 2 [4] | Patient 3 [5] | Patient 4 [1] | Patient 5 [1] | Patient 6 (this report) | |
|---|---|---|---|---|---|---|
Duplication Size | 6.1 Mb | 8.3 Mb | 17.6 Mb | 8.85 Mb | 8.85 Mb | 10.5 Mb |
Cytoband | 16q22.1q23.1 | 16q22.1q23.1 | 16q22.3q24.3 | 16q22.3q23.3 | 16q22.3q23.3 | 16q22.3q24.1 |
Sex | M | M | F | M | F | M |
Height | ‐3 SD | ‐2 SD | Not reported | 0 SD | + 1 SD | + 1.39 SD |
Weight | ‐2 SD | ‐2.5 SD | Not reported | ‐1 SD | ‐1 SD | > + 3 SD |
OFC | ‐0.6 SD | < − 2 SD | Not reported | ‐2.6 SD | + 2 SD | + 0.54 SD |
ID | + | + | ‐ | + | ‐ | + |
Seizures | + | ‐ | ‐ | + | ‐ | ‐ |
Dysmorphic features (including midface hypoplasia) | + | + | ‐ | + | ‐ | + |
Congenital anomalies | + | + | ‐ | + | ‐ | + |
Neurologic Features | + | + | + | + | ‐ | - |
Psychiatric Features | ‐ | ‐ | + | ‐ | + | - |
Other | 5th finger clinodactyly, flat foot, wide gait, cryptorchidism, mild anemia, vesicoureteric reflux | Vision loss, hypothyroidism | None | 5th finger clinodactyly, left toes with outward deviation | 5th finger clinodactyly | Cleft palate, obesity, pubertal delay |