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.

CategoryMicroarray results (%)Total
Pathogenic CNVsVUSNormal

Isolated DD/ID60 (18.07)5 (1.51)267 (80.42)332
DD/ID with MCA52 (34.90)0 (0.00)97 (65.10)149
DD/ID with ASD3 (3.70)0 (0.00)78 (96.30)81
DD/ID with epilepsy12 (16.90)2 (2.82)57 (80.28)71
Total127 (20.06)7 (1.11)499 (78.83)633

DD: developmental delay; ID: intellectual disability; MCA: multiple congenital anomaly; ASD: autism spectrum disorder.