Table 2.
Phenotypes of 16 pediatric patients with 17p11.2 duplication
| 7p11.2 duplication cases | Frequency | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16* | |
| Gender | Female | Male | Male | Male | Male | Male | Female | Female | Female | Female | Male | Male | Female | Male | Male | Male | NA |
| Age# | 7 years | 5 months | 7 years | 16 months | 2 years | 2 years | 9.5 years | 9 months | 2.5 years | 1 years | 7 years | 8 months | 9 years | 40 days | 18 months | 9 months | NA |
| Height (cm)$ ( percentile) | 122.5 (50th) | 68 (75th) | 119 (25th) | 79.5 (50th) | 90 (75th) | 88 (50th) | 135 (50th) | 71.5 (50th) | 90 (25th) | 77 (75th) | 122 (50th) | 69.5 (50th) | 117.5 (< 3rd) | 54.5 (50th) | 78.5 (25th) | 70 (25th) | 1 (short stature)/16 |
| Neurobehavioral | |||||||||||||||||
| Motor delay | × | – | – | × | – | × | × | – | × | × | – | – | – | × | × | 8/16 | |
| Intellectual disability | × | – | × | × | × | – | × | – | – | – | × | – | × | – | – | × | 8/16 |
| Language delay | × | – | – | × | – | × | × | – | × | × | – | × | – | – | – | 7/16 | |
| Global developmental delay | – | × | – | – | × | – | – | – | – | × | – | × | × | – | – | – | 5/16 |
| Attention deficit | × | × | – | – | – | – | – | – | – | × | – | × | – | – | – | 4/16 | |
| Muscular hypotonia | – | – | – | – | – | – | – | × | – | – | × | – | – | – | – | × | 3/16 |
| Stiff expression | × | – | – | × | – | – | – | – | – | – | × | – | – | – | – | – | 3/16 |
| Hyperactivity | × | – | – | – | – | – | – | – | – | – | × | – | – | – | – | – | 2/16 |
| Autism spectrum disorder | – | – | – | – | – | × | – | – | – | – | – | – | – | – | – | – | 1/16 |
| Sleep disturbance | – | × | – | – | – | – | – | – | – | – | – | – | – | – | – | 1/16 | |
| Ocular | |||||||||||||||||
| Strabismus | – | – | – | – | – | – | × | – | – | – | × | – | – | – | – | – | 2/16 |
| Amblyopia | – | – | – | – | – | – | × | – | – | – | – | – | – | – | – | 1/16 | |
| Glaucoma | – | – | – | – | – | – | – | – | – | – | × | – | – | – | – | – | 1/16 |
| Craniofacial/Skeletal | |||||||||||||||||
| Ptosis | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | × | 1/16 |
| Others | |||||||||||||||||
| Cryptorchidism | – | – | – | – | – | – | – | – | – | – | – | – | – | × | × | – | 2/16 |
| Descending cerebellar tonsil | × | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | 1/16 |
| Hydrocephalus | × | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | 1/16 |
| Arachnoid cyst of greater occipital pool | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | × | 1/16 |
* This child had both 17p11.2 duplication and 22q11.2 duplication. # 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