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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
  1. aAlso includes susceptibility loci/low penetrance