Table 3. CNVs likely benign for ASDs.
| Patient | Sex | Age (years) | aCGH results | Genes | Size (Mb) | Verification | Inheritance | Clinical features |
|---|---|---|---|---|---|---|---|---|
| 7a | M | 6 | arr 1q42(232 599 960–233 353 732) × 3 | SIPA1L2, KIAA1383, PCNXL2 | 0.75 | aCGH | mat | Autism, ID |
| 8 | M | 7 | arr 3p22.3p22.3(33 699 383–34 886 828) × 3 | CLASP2, PDCD6IP | 1.2 | aCGH | pat | Autism, abnormal speech, and cognitive development |
| arr 8q12.3q12.3(65 435 094–65 877 563) × 3 | LOC401463, BHLHE22, CYP7B1 | 0.4 | mat | |||||
| arr 8q13.1q13.2(67 832 256–68 060 554) × 3 | C8orf45, SNHG6, SNORD87, LRRC67, COPS5, CSPP1 | 0.2 | mat | |||||
| 9 | M | 5 | arr 5q21.3q21.3(108 363 227–108 686 239) × 1 | FER, PJA2 | 0.32 | FISH RP11-79N23 | mat | Autism, severe DD, sensorineural deafness, dysmorphic face, hypotonia, flat and valgus feet, pectus excavatum, genu valgity |
| 10 | M | 9 | arr 6p23p24.1(13 210 982–13 501 758) × 1 | PHACTR1, TBC1D7, GFOD1, C6orf114 | 0.3 | FISH RP11-22F19 | mat | Autism, ID, GERD, hypotonia, genu valgity, joint laxity |
| 11 | M | 10 | arr 12p12.2p12.1(21 134 799–21 404 166) × 1 | LST-3TM12, SLCO1B1 | 0.4 | FISH RP11-635H24 | mat | Autism |
| 12 | M | 7 | arr 8q22.2q22.2(100 274 917-100 519 253) × 1 | VPS13B | 0.25 | aCGH | pat | Autism, ID, hypotonia, abnormal pattern of EEG in occipital regions and tendency to generalization during sleep |
Abbreviation: GERD, gastroesophageal reflux disease.
a
Additional potentially pathogenic duplication 16p13.11 (Table 2).