New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Table 3 Cytogenetic features of detected CNVs

	Average size of chromosomal rearrangement (kb)	Deletions	Duplications	Gene Content	Multiple chromosomal rearrangements (number of patients)
VOUS (25)	523.30	13	13	2.73	9
Pathological CNV (65)	7018.2	65	42	34.67	29
Benign (26)	364.72	19	25	2.52	11

It should be noticed that pathogenic CNVs shared larger rearrangements, high number of deletions and multiple rearrangements

ISSN: 1824-7288