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 |