Table 2 Clinically significant CNV
From: Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
Patient number | Gender/group | Array CGH result [hg18] | Chromosome region | Aberration type | Size (Mb) | Clinical significance | IQ | Additional clinical features |
|---|---|---|---|---|---|---|---|---|
1 | Male/adult | arr 16p13.11(15,033,259–16,195,404) × 3 | 16p13.11 | Duplication | 1.16 | Susceptibility to ASD | 82 | Nil |
2 | Male/adult | arr 15q11.2(20,372,901–20,636,841) × 1 | 15q11.2 | Deletion | 0.26 | Deletion in Prader-Willi/Angelman region with NIPA1 gene involved | 129 | Nil |
3 | Male/adult | arr 15q23q24.1(69,471,038–71,439,732) × 1 | 15q23–q24.1 | Deletion | 1.97 | Deletion of 19 genes. Known association with ASD and intellectual disability | 85 | Subtle facial dysmorphism |
4 | Male/adult | arr 16p13.11(15,033,259–16,195,404) × 3 | 16p13.11 | Duplication | 1.16 | Susceptibility to ASD | 90 | Nil |
5 | Male/adult | arr 16p13.11 (15,033,259–16,195,404) × 3 | 16p13.11 | Duplication | 1.16 | Susceptibility to ASD | 96 | Left frontal haemangioma, epilepsy |
6 | Male/paediatric | arr 14q22.1(50,241,594-50,360,747) × 1 | 14q22.1 | Deletion | 0.12 | Deletion of the NIN gene | N/A | Nil |
7 | Female/paediatric | arr 18q22.1q23(61,576,686–76,114,624) × 1 | 18q22.1–q23 | Deletion | 14.53 | Large terminal deletion | N/A | Developmental delay, hypotonia, hearing loss, delayed myelination of brain, umbilical hernia and ear canal stenosis |
8 | Female/paediatric | arr 16p13.11(15,033,259–16,195,404) × 3 | 16p13.11 | Duplication | 1.16 | Susceptibility to ASD | N/A | Developmental delay |