Table 1 Pathogenic copy number variants identified by molecular karyotype
From: Genomic diagnostics within a medically underserved population: efficacy and implications
Proband no. | Age (yr) | Phenotype | OMIM | Copy-number variant |
|---|---|---|---|---|
1 | 1.0 | Angelman syndrome | 105830 | arr[hg19] 15q11.2q13.1(22,770,421-28,723,454)x1 |
2 | 14.9 | Hereditary neuropathy with liability to pressure palsies (HNPP) | 118220 | arr[hg19] 17p12(14,087,787-15,491,532)x1 |
3 | 0.4 | Turner syndrome | 313000 | arr(X)x1 |
4 | 3.0 | Cortical dysplasia focal epilepsy syndrome (CDFE) | 610042 | arr[hg19] 7q35(146,737,887-146,770,928)x1 |
5 | 0.1 | Split-hand/split-foot malformation with long bone deficiency-3 (SHFLD3) | 612576 | arr[hg19] 17p13.3(716,836-1,165,473)x3 |
6 | 4.6 | Syndromic global developmental delay, congenital heart disease | arr[hg19] 2q32.1q32.2(189,297,817-191,024,072)x1 | |
7 | 6.6 | Syndromic global developmental delay, congenital heart disease | arr[hg19] 10q25.2q26.3(112,298,956-135,427,143)x3 |
