Skip to main content

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
  1. N/A not available