TABLE 3.
Pathogenic Findings
| Genetic Findings in Sample According to Test Performed | n (%) |
|---|---|
| CMA completed | 299 |
| Variants of unknown significance | 77 (25.8) |
| Known pathogenic or likely pathogenic finding | 27 (9.0) |
| 15q deletions or duplications | 10 |
| 22q11 deletions or duplications | 2 |
| The remaining were found in a single patient: | 1 |
| 48 XXYY | |
| Mosaic trisomy 8 | |
| 1p12 deletion | |
| 2p21 deletion | |
| 2p22.3-22.2 deletion | |
| 2q12.3-q13 deletion | |
| 2q37.3 deletion | |
| 4q21.21 deletion | |
| 5p15.33-p15.31 deletion | |
| 5q11.2-13.1 deletion | |
| 8p22 deletion | |
| 13q32.3 deletion | |
| 16p13.11 deletion | |
| 20p11.23-p11.21 deletion | |
| Xp21.1 duplication | |
| Fragile X test completed | 299 |
| Positive finding | 9 (3.0) |
| Full mutation | 3 |
| Premutation | 3 |
| Gray zone | 2 |
| Mosaic | 1 |