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. 2017 May 25;19(12):1317–1322. doi: 10.1038/gim.2017.64

Table 1. Summary of chromosome microarray analysis results in males with intellectual disability (no autism).

Description n(%)
Total male patients with ID/LD 192
Pathologic or likely pathologic CNV 28 (15)
Likely pathologic CNV but unknown in this phenotype 2 (1)
AOH, no sequencing completed on the autosomal recessive genes in this region 8 (4)
VUS; no parental testing 16 (8)
VUS and AOH; no parental testing, and sequencing not informative 2 (1)

AOH, absence of heterozygosity; CNV, copy-number variant; ID/LD, intellectual disabilities/learning delay; VUS, variant of uncertain significance.