Table 1 Overall findings of microarray testing
From: Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients
Number | % | |
|---|---|---|
Total no of cases | 5369 | - |
Abnormal | 1523 | 28.3 |
Imbalances | ||
Deletions | 652 | 12.1 |
Duplications | 871 | 16.2 |
CNV >5 Mb | 171 | 3.2 |
Mosaic | 8 | 0.1 |
Pathogenic CNVs | 462 | 8.6 |
Aneuploidy | 37 | 0.7 |
Syndromes | 262a | 4.9 |
X Chromosome | 75 | 1.4 |
Inheritance studies | ||
No of cases | 237 | 4.4 |
De novo | 95 | 1.8 |
Maternal | 103 | 1.9 |
Paternal | 58 | 1.0 |