Table 4.
Developmental and neurologic status in duplication 17p13.3 patients
| Pt# | Hypotonia | Seizures | Cognition | ASD | Other |
|---|---|---|---|---|---|
| Group 1 | |||||
| 1 | + | − | Mild ID | + | Poor balance |
| 2 | + | − | Mild ID | + | |
| 3a1 | + | − | Mild ID | − | |
| 3a2 | na | − | Normal | − | |
| 4a1 | na | − | Mild ID | + | |
| 5a1 | + | − | Mild ID | − | |
| 5a2 | na | + | LD | − | ADD, unusual affect |
| 6 | + | − | Mod ID | − | |
| 7a1 | − | + | Severe ID | − | Mild spasticty, ataxia |
| 7a2 | na | − | LD | − | |
| 8a1 | + | − | Mild ID | − | |
| 8a2 | + | − | Mod ID | − | |
| 8a3 | na | − | Mild ID | + | Both parents have ASD |
| Group 2 | |||||
| 9 | + | − | Mild ID | − | |
| 10 | + | − | Mod ID | − | |
| 11a2 | na | − | LD | − | |
| 12 | na | + | LD | + | ADD, mild spasticity, ataxia, depression |
| 13a1 | − | − | Mild ID | − | |
| 13a2 | na | − | LD | − | |
| 14 | + | − | Mild ID | + | Poor balance, temper tantrums |
| 15 | + | − | Mild ID | − | Poor balance |
| 16 | + | − | Mild ID | + | Temper tantrums |
| 17a1 | + | − | Mild ID | − | |
| Group 3 | |||||
| 18 | na | − | Mod ID | − | ADHD |
| 19 | + | − | LD | − | ADHD, behavior problems |
| 20a1 | + | − | Mild ID | − | Temper tantrums |
| 20a2 | + | + | Mild ID | − | Temper tantrums |
| 20a3 | na | − | LD | − | |
| 21a2 | na | − | Normal | − | |
| 21a3 | na | − | Normal | − | |
Abbreviations: ADHD, attention deficity hyperactivity disorder; ASD, autistic spectrum disorder; ID, intellectual disability; LD, learning disability; Mod, moderate ID; na, not available; Pt#, patient number.