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Table 2 Overall findings of microarray testing

From: Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

  Number %
Total number of cases 279
With imbalances 112 40
With pathogenic CNVs 61 22
With Known syndromes 47 17
Pathogenic imbalances a 68
 Del 49 72
 Dup 19 28
  > 5 Mb 21 31
 De novo 30 49
 Inherited 6 10
 Unknown 19 31
 Not maternal 6 10
With likely pathogenic CNVs 6 2
With CNVs of uncertain significance 15 5
With likely benign CNVs 30 11
  1. aPathogenic imbalances included 45 simple deletions or duplications, 4 unbalanced translocations, an insertional translocation, and 6 other complex rearrangements believed to have been formed from the same rearrangement. In the remaining 5 patients, the rearrangements were associated with a second-site CNV arisen apparently independent which were classified as benign or of uncertain significance