TABLE 1.
Adapted from 5
| Tokutomi (2009) | Nguyen (2018) | Rudd (2015) | Patient 1 (This Report) | Patient 2 (This Report | |
|---|---|---|---|---|---|
| Duplication Size | 6.1 Mb | 8.3 Mb | 17.6 Mb | 8.85 Mb | 8.85 Mb |
| Cytoband | Chr16q22.1q23.1 | Chr16q22.1q23.1 | Chr16q22.3q24.3 | Chr16q22.3q23.3 | Chr16q22.3q23.3 |
| Sex | M | M | F | M | F |
| Height | ‐3 SD | ‐2 SD | Not reported | 0 SD | +1 SD |
| Weight | ‐2 SD | ‐2.5 SD | Not reported | ‐1 SD | ‐1 SD |
| OFC | ‐0.6 SD | <−2 SD | Not reported | ‐2.6 SD | +2 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, vesicouretic reflux | Vision loss, hypothyroidism | None | 5th finger clinodactyly, left toes with outward deviation | 5th finger clinodactyly |
Comparison of clinical features of the five known patients carrying duplications of the16q22.3q23.1 region, including the patient in the Psychiatric literature, and the two patients presented in this paper.