Table 5.
Genomic Variations Associated with Autism
| Type of Variation | Incidence Among Autistic Individuals | Chromosomes | References |
|---|---|---|---|
| Interindividual genomic variations | |||
| CNVs | ~7% | almost all chromosomes (in different degree) | [91] |
| CNVs | 10% | 2p; 2q; 3p; 6p; 7p; 10q; 13q; 15q; 16p; 20p | [92] |
| Microdeletions (del) and Microduplications (dup) | — | 16p13.1 | [93] |
| Duplications | — | 7q11.23 (Williams-Beuren syndrome region) | [94] |
| Microdeletions (del) and Microduplications (dup) | 0.6% (del) ~1% (del+dup) | 16p11.2 | [95] [96] |
| CNVs | ~7% | almost all chromosomes (in different degree) | [97] |
| Submicroscopic chromosome abnormalities | 11.6% | 2p; 2q; 3p; 3q; 5q; 7p; 7q; 8q; 10p; 11p; 12p; 13q; 14q; 15q; 16p; 16q; 17p; 18q; 19q; 20p; 20q; 21q; 22q; Xp | [98] |
| Heteromorphisms of heterochromatic regions | 48% | 1qh; 9qh; 16qh | [99, 100] |
| Structural gross chromosome aberrations | ~5% | almost all chromosomes | [90, 101, 102] |
| Intercellular genomic variations | |||
| Mosaic structural gross chromosome aberrations | single case-reports | 3q; 20p (other chromosomes are also reported) | [103, 104] |
| Fragile sites (+fragile X syndrome) | — | 1; 2; 3; 4; 5; 7; 9; 10; 11; 16; X | [102, 105] |
| Mosaic aneuploidy and supernumerary marker chromosomes | 16% | 9; 15; 16; 18; X | [48] |