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

Table 2 Overall findings of microarray testing

	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

^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

ISSN: 1755-8166