Research Article
Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation
Table 1
Summary of CMA results in 633 patients.
| Category | Microarray results (%) | Total | Pathogenic CNVs | VUS | Normal |
| Isolated DD/ID | 60 (18.07) | 5 (1.51) | 267 (80.42) | 332 | DD/ID with MCA | 52 (34.90) | 0 (0.00) | 97 (65.10) | 149 | DD/ID with ASD | 3 (3.70) | 0 (0.00) | 78 (96.30) | 81 | DD/ID with epilepsy | 12 (16.90) | 2 (2.82) | 57 (80.28) | 71 | Total | 127 (20.06) | 7 (1.11) | 499 (78.83) | 633 |
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DD: developmental delay; ID: intellectual disability; MCA: multiple congenital anomaly; ASD: autism spectrum disorder.
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