Table 2.
Summary of Clinical CMA Studies on 21,698 Subjects
| Author | Location | Patients | Phenotype | Controls | Array Type | Resolution | Diagnostic Yield |
|---|---|---|---|---|---|---|---|
| Vissers et al. (2003)22 | Netherlands and U.S. | 20 | ID, DF | 4 (2M, 2F) | BAC | Whole genome (1.0 Mb) | 10.0% |
| Shaw-Smith et al. (2004)23 | U.K., France | 50 | ID (moderate to severe) | Pooled DNA (20M, 20F) | BAC | Whole genome (1.0 Mb) | 14.0% |
| de Vries et al. (2005)6 | Netherlands | 100 | ID | 72 parents of probands | BAC | Whole genome (50 kb) | 10.0% |
| Schoumans et al. (2005)24 | Sweden | 41 | ID (mild to severe) | Pooled DNA (10 subjects) | BAC | Whole genome (1.3 Mb) | 9.8% |
| Tyson et al. (2005)25 | Canada | 22 | ID, DF | Pooled normal of four to six males or females (Promega) | BAC | Whole genome (1.3 Mb) | 13.7% |
| Wong et al. (2005)26 | U.S. | 102 | ID | Normal controls | BAC | Telomere | 18.6% |
| Ballif et al. (2006)27 | U.S. | 3600 | ID, DD | BAC | Targeted | 5.1% | |
| Friedman et al. (2006)28 | Canada | 100 | ID | 8 unaffected siblings | SNP Oligo (Affy 100k) | Whole genome (30 kb) | 11.0% |
| Krepischi-Santos et al. (2006)29 | Brazil | 95 | ID, DF, MCA | 100 control observations for each chromosome pair | BAC | Whole genome (1.0 Mb) | 16.8% |
| Menten et al. (2006)30 | Belgium | 140 | ID, MCA | Other patient samples in cohort | BAC | Whole genome (1.0 Mb) | 13.6% |
| Ming et al. (2006)31 | U.S. | 10 | MCA | 128 (42 Caucasian, 42 African-American, 20 Asian, 20 NIGMS) | SNP Oligo (Affy 100k) | Whole genome (30 kb) | 20.0% |
| Miyake et al. (2006)32 | Japan | 30 | ID, MCA | 2 negative (1M, 1F), 1 positive | BAC | Targeted (1.4 Mb) | 16.7% |
| Rosenberg et al. (2006)33 | Netherlands, Brazil, U.K. | 81 | ID (Mild to severe), DF | 100 control observations for each chromosome pair | BAC | Whole genome (1.0 Mb) | 16.0% |
| Sharp et al. (2006)34 | U.K., U.S. | 290 | ID +/− DF; +/− MCA | 316 controls from various ethnicities | BAC | Targeted | 5.5% |
| Shaffer et al. (2006)35 | U.S. | 1500 | Various indications | Opposite gender control | BAC | Targeted | 5.6% |
| Aradhya et al. I(2007)36 | U.S. | 20 (12M, 8F) | ID or DD +/− DF; +/− MCA, +/− GR | Normal male or female (Promega) | Oligo (Agilent 44k) | Whole genome (70 kb) | 35.0% |
| Baris et al. (2007)37 | U.S. | 234 | ID or DD, DF, MCA | 50 normal controls (25M, 25F) and 36 patients with abnormal chromosome testing | BAC | Targeted | 5.6% |
| Engels et al. (2007)38 | Germany | 60 | ID | Pooled DNA (10M, 10F) | BAC | Whole genome and Targeted (0.5 Mb) | 10.0% |
| Fan et al. (2007)39 | U.S. | 100 | ID or DD | 7M, 7F gender matched | Oligo (Agilent 44k) | Whole genome (35 kb) | 15.0% |
| Hoyer et al. (2007)10 | Germany | 104 | ID | Not specified | SNP Oligo (Affy 100k) | Whole genome (30 kb) | 9.6% |
| Lu et al. (2007)40 | U.S. | 2513 | ID or DD, DF, MCA, ASD | Normal (1M, 1F) | BAC | Targeted | 7.0% |
| Newman et al. (2007)41 | U.K. | 36 | DD, LD, DF | Not specified | BAC | Whole genome (1.0 Mb) | 13.8% |
| Shaffer et al. (2007)42 | U.S. and “abroad“ | 8789 | ID or DD, MCA | Normal (1M) | BAC | Targeted | 6.9% |
| Shen et al. (2007)43 | U.S. | 211 | ID or DD, MCA, MCA | Normal (1M, 1F) | Oligo (Agilent) | Targeted (35 kb in target regions) | 7.6% |
| Thuresson et al. (2007)44 | Sweden | 48 | ID, DF, MCA | 8M, 8F gender matched | BAC | 1 Whole genome (1.0 Mb) | 6.3% |
| Wagenstaller et al. (2007)45 | Germany | 67 | ID (mild to severe) | 44 unaffected parents and 4 children with known translocations | SNP Oligo (Affy 100k) | Whole genome (30 kb) | 16.4% |
| Aston et al. (2008)46 | U.S. | 1075 | ID, DD, DF, MCA | Normal control of the opposite gender (Promega) | BAC | Whole genome (1.3 Mb) | 5.3% |
| Baldwin et al. (2008)47 | U.S. | 211 | ID, DD, DF, MCA, ASD | Normal control of the opposite gender (Promega) | Oligo (custom Agilent 44k) | Whole genome and Targeted (75 kb) | 15.6% |
| Pickering et al. (2008)48 | U.S. | 1176 | ID or DD | Normal (1M, 1F) | BAC | Targeted (n = 822) and whole genome (1 Mb; n = 354) | 7.8% |
| Shevell et al. (2008)49 | Canada | 94 | ID, DD | Not specified | BAC | Targeted | 6.4% |
| Xiang et al. (2008)50 | U.S. | 50 | ID, DD | Gender mismatched | Oligo (Agilent 44k) | Whole genome (35 kb) | 18.0% |
| Nowakowska et al. (2008)51 | U.S. | 91 | ID, DF | Normal (1M, 1F) | BAC | Targeted | 11.8% |
| Lu et al. (2008)52 | U.S. | 638 | MCA | Normal (1M, 1F) | BAC (n = 372) and Oligo (n = 266) | Targeted with backbone | 17.1% |
ASD = autism spectrum disorders; BAC = bacterial artificial chromosome; DD = developmental delay; DF = dysmorphic features; ID = intellectual disability; LD = learning disabilities; MCA = multiple congenital anomalies. Where an array is indicated as “targeted,” the resolution of regions outside the target area (e.g., backbone coverage) is not specified.