Table 1 Diagnostic yield of CNVs identified in the cohort.
Clinical diagnosis | Age (years) | Total no. | Sex, no. | Chromosomal syndrome (No.) | Pathogenic (No.) | Likely pathogenic (No.) | Diagnostic yield (%) |
|---|---|---|---|---|---|---|---|
ASD | 1–2 | 2 | Male, 2 | 0 | 0 | 0 | 0 |
Female, 0 | 0 | 0 | 0 | 0 | |||
2–5 | 114 | Male, 94 | 3 | 3 | 0 | 4.3(3/94) | |
Female, 20 | 1 | 1 | 0 | 5.0(1/20) | |||
>5 | 35 | Male, 31 | 0 | 0 | 1 | 2.9(1/35) | |
Female, 4 | 0 | 0 | 0 | 0 | |||
Total | 151 | Male, 127 | 3 | 3 | 1 | 3.1(4/127) | |
Female, 24 | 1 | 1 | 0 | 4.2(1/24) | |||
M + F, 151 | 4 | 4 | 1 | 3.3(5/151) | |||
ID/DD | <1 | 104 | Male, 58 | 11 | 13 | 0 | 22.4(13/58) |
Female, 46 | 7 | 10 | 3 | 28.3(13/46) | |||
1–2 | 62 | Male, 33 | 12 | 12 | 0 | 36.4(12/33) | |
Female, 29 | 9 | 13 | 0 | 44.8(13/29) | |||
2–5 | 68 | Male, 43 | 10 | 13 | 1 | 32.6(14/43) | |
Female, 25 | 11 | 11 | 0 | 44.0(11/25) | |||
>5 | 17 | Male, 13 | 0 | 1 | 0 | 7.7(1/13) | |
Female, 4 | 2 | 2 | 0 | 50.0(2/4) | |||
Total | 251 | Male, 147 | 33 | 39 | 1 | 27.2(40/147) | |
Female, 104 | 29 | 36 | 3 | 37.5(39/104) | |||
M + F, 251 | 62 | 75 | 4 | 31.5(79/251) | |||
ASD + ID/DD | Total | 402 | Male, 274 | 35 | 42 | 2 | 16.1(44/274) |
Female, 128 | 29 | 37 | 3 | 31.3(40/128) | |||
M + F, 402 | 64 | 79 | 5 | 20.9(84/402) |
