Table 2. Clinical features observed at diagnosis.
| Whole series (n=688) | Diagnosis using FISH (n=673) | Diagnosis using aCGH (n=15) | ||||
|---|---|---|---|---|---|---|
| % | N | % | N | % | N | |
| Facial dysmorphism | 49.7% | 342 | 49.4% | 334 | 53.3% | 8 |
| Congenital heart defects | 48.5% | 334 | 49.0% | 331 | 20.0%a | 3 |
| Developmental delay/intellectual disability | 40.7% | 280 | 39.9% | 270 | 66.7% | 10 |
| Velopharyngeal insufficiency | 18.3% | 126 | 18.5% | 125 | 6.7% | 1 |
| Hypocalcemia | 14.5% | 100 | 14.8% | 100 | 0.0% | 0 |
| Frequent infections | 7.8% | 54 | 8.0% | 54 | 0.0% | 0 |
| Oral cleft | 7.8% | 54 | 8.0% | 54 | 0.0% | 0 |
| Psychiatric and behavioral disorders | 7.4% | 51 | 7.2% | 49 | 13.3% | 2 |
| Thymus agenesia | 7.1% | 49 | 7.2% | 49 | 0.0% | 0 |
| Kidney abnormalities | 6.0% | 41 | 5.6% | 38 | 20.0% | 3 |
| Feeding difficulties | 5.5% | 38 | 5.6% | 38 | 0.0% | 0 |
| Epilepsy | 5.5% | 38 | 5.6% | 38 | 0.0% | 0 |
| Respiratory disorders | 5.1% | 35 | 5.2% | 35 | 0.0% | 0 |
| Growth retardation | 4.4% | 30 | 3.8% | 26 | 26.7%a | 4 |
| Clubfeet | 3.3% | 23 | 3.3% | 22 | 6.7% | 1 |
| Scoliosis | 2.5% | 17 | 2.5% | 17 | 0.0% | 0 |
| Abnormal male genitalia | 2.3% | 16 | 2.4% | 16 | 0.0% | 0 |
| Deafness | 2.3% | 16 | 2.4% | 16 | 0.0% | 0 |
| Microcephaly | 1.6% | 11 | 1.2% | 8 | 20.0%a | 3 |
| Polydactyly | 1.0% | 7 | 1.0% | 7 | 0.0% | 0 |
| Neural tube defect | 0.7% | 5 | 0.6% | 4 | 6.7% | 1 |
| Central nervous system malformation | 0.7% | 5 | 0.4% | 3 | 13.3%a | 2 |
| Spine bone malformation | 0.6% | 4 | 0.4% | 3 | 6.7% | 1 |
a
Significantly greater or lower frequency than for cases diagnosed with FISH.