Table 4.
Study | Array type | No. tested | Other diagnosis | PCNVs rates | VOUS rates |
---|---|---|---|---|---|
Thienpont et al. 2007 [9] | 1 Mb BAC | 60 | MCA, ID | 16.7% | 11.7% |
Richards et al. 2008 [11] | 385 K oligo arrays | 20 | MCA, DD/ID | 25% | 9.8% |
20 | None | 0 | |||
Erdogan et al. 2008 [10] | 1 Mb BAC or 1 × 244 K Agilent arrays | 105 | None | 4.7% | Unknow |
Greenway et al. 2009 [12] | Affymetrix SNP 6.0 | 114 | None | 5.3% | Unknow |
Breckpot J et al. 2010 [13] | 1 Mb array | 150 | MCA | 17.3% | Unknow |
Rauch et al. 2010 [14] | 100 K Affymetrix | 19 | MCA | 21% | Unknow |
Goldmuntz et al. 2011 [16] | 100 K Oligo array | 58 | MCA | 20.7% | 3.4% |
Breckpot et al. 2011 [15] | Affymetrix SNP 6.0 | 46 | None | 4.3% | Unknow |
Derwinska et al. 2012 [17] | 180 K Oligo | 150 | MCA | 14% | Unknow |
Syrmou et al. 2013 [19] | 1 × 244 K or 4 × 180 K Agilent arrays | 55 | MCA | 25.5% | Unknow |
Bachman et al. 2013 [18] | Roche NimbleGen 135 K arrays | 46 | MCA | 10.9% | Unknow |
Our study | Affymetrix CytoScan HD arrays | 104 | MCA, ID/DD | 27.9% | 2.9% |
BAC bacterial artificial chromosome, MCA multiple congenital anomalies, DD/ID development delay/intellectual disabilities, SNP single nucleotide polymorphism