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.