Table 1.
Phenotypes of 12 pediatric patients with 17p11.2 deletion
| 17p11.2 deletion cases | Frequency | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Case number Gender Age* |
1 Female 7 years |
2 Male 5 years |
3 Male 10 years |
4 Male 5 years |
5 Male 5 years |
6 Female 9.5 years |
7 Female 30 days |
8 Female 1 years |
9 Male 19 months |
10 Male 4 years |
11 Male 3.5 years |
12 Male 9.5 years |
NA NA |
| Height (cm)# ( percentile) | 111 (< 3rd) | 110.5 (50th) | 121 (< 3rd) | 113 (75th) | 111 (50th) | 134 (25th) | 52.5 (50th) | 75 (50th) | 83 (75th) | 103.5 (50th) | 95.5 (25th) | 130 (10th) | 2(short stature)/12 |
| Neurobehavioral | |||||||||||||
| Language delay | – | – | × | × | × | × | – | × | – | × | × | × | 8/12 |
| Motor delay | – | – | × | × | × | × | – | × | × | – | × | × | 8/12 |
| Intellectual disability | – | – | × | × | × | × | – | – | – | – | – | – | 4/12 |
| Hyperactivity | – | – | × | × | - | × | – | – | – | – | – | – | 3/12 |
| Attention deficit | – | – | × | × | - | × | – | – | – | – | – | – | 3/12 |
| Autism spectrum disorder | – | – | – | – | – | – | – | – | – | × | × | – | 2/12 |
| Cognitive impairment | – | – | – | – | – | – | – | – | – | – | × | – | 1/12 |
| Global development delay | – | – | – | – | × | – | – | – | – | – | – | – | 1/12 |
| Temper tantrums | – | – | – | × | – | – | – | – | – | – | – | 1/12 | |
| Sleep disturbance | – | – | – | – | – | – | – | × | – | – | – | – | 1/12 |
| Craniofacial/Skeletal | |||||||||||||
| Wide eye distance | × | – | × | – | – | × | – | – | – | – | – | – | 3/12 |
| Depressed nasal bridge | × | – | – | – | – | – | – | – | – | – | – | – | 1/12 |
| Lateral canthus upwarping | – | – | – | – | – | × | – | – | – | – | – | – | 1/12 |
| Square-shaped face | – | – | – | – | – | – | – | – | – | – | – | × | 1/12 |
| Cleft lip/palate | – | – | – | – | – | – | × | – | – | – | – | – | 1/12 |
| Tongue protrusion | – | – | × | – | – | – | – | – | – | – | – | – | 1/12 |
| Antijaw | – | – | × | – | – | – | – | – | – | – | – | – | 1/12 |
| Heavy eyebrows | – | – | – | – | – | – | – | – | – | – | – | × | 1/12 |
| Cubitus valgus | – | – | × | – | – | – | – | – | – | – | – | – | 1/12 |
| Rickets | × | – | – | – | – | – | – | – | – | – | – | – | 1/12 |
| Immunologic | |||||||||||||
| Maxillary sinusitis | – | × | – | – | – | – | – | – | – | – | × | – | 2/12 |
| Sphenoid sinusitis | – | × | – | – | – | – | – | – | – | – | – | – | 1/12 |
| Others | |||||||||||||
| Cardiac defects | – | – | – | – | – | – | × | × | – | – | – | – | 3/12 |
| Leukodystrophy | – | × | – | – | – | – | – | – | – | – | – | – | 1/12 |
| Gallstone | – | × | – | – | – | – | – | – | – | – | – | – | 1/12 |
| Tracheoesophageal fistula | – | – | – | – | – | – | × | – | – | – | – | – | 1/12 |
| Arachnoid cyst of greater occipital pool | – | – | – | – | – | – | – | – | – | – | × | – | 1/12 |
* The age provided was the age at the time the sample was submitted for MLPA test. # Height was measured when the sample was submitted for MLPA test. “ × ” indicates the phenotype is present in the patient; “–” indicates the phenotype is absent in the patient; “NA” indicates not available