| | Patient | Phenotype | Gender | Event | Size | Chr. Position hg18 | Inheritance | Genes | CNVs | Decipher | ASD regions [5] | In G2
% | In G3
% | In G4
% |
| | 1 | Autism | F | Del | 27.16 kb | chr19:59,840,527-59,868,239 | Father | LILRB1, LILRB4 | YES | AUTISM | YES | 1 | 0 | 0 |
| | 2 | ASD | M | Dup | 40.27 kb | chr1:229,985,499-230,025,777 | de novo | TSNAX1- DISC1, DISC1, DISC2 | NO | MR/DD | YES | 0 | 4 | 10 |
| | 3 | DD, DF, AF | M | Dup | 304.87 kb | chr5:61,885,191-62,190,063 | Father | IPO11, LRRC70 | NO | MR/DD | YES | 1 | 0 | 0 |
| | 4 | MR, epilepsy, AF | M | Dup | 829 kb | chr11:132,447,787-133,276,750 | Father | OPCML | NO | AUTISM/SPEECH DELAY | YES | 1 | 0 | 0 |
| | 5 |
Autism |
M | Del | 167.4 kb | chr2:212,521,344-212,688,773 | Mother | ERBB4 | NO | SPEECH DEFECTS | YES | 1 | 0 | 0 | | Del | 191.3 kb | chr3:60,047,028-60,238,353 | Mother | FHIT | YES | SPEECH DELAY/MR/DD | YES | 1 | 0 | 0 |
| | 6 | ASD, MR | M | Dup | 101.78 kb | chr17:9,906,791-10,008,572 | Father | GAS7 | NO | NO | YES | 1 | 0 | 0 |
| | 7 |
ASD high functioning |
M | Dup | 923.6 kb | chr22:47,373,766-48,297,411 | Mother | FAM19A5 (TAFA5) | NO | AUTISM | YES | 1 | 0 | 0 | | Del | 41.87 kb | chr2:178,247,791-178,289,664 | Mother | PDE11A | NO | SPEECH DELAY | YES | 1 | 0 | 0 |
| | 8 |
ASD high functioning |
M | Del | 101.4 kb | chr3:6,981,830-7,103,523 | Mother | GRM7 | NO | SPEECH DELAY | YES | 1 | 0 | 0 | | Dup | 2.24 Mb | chr1:144,513,497-146,753,802 | Mother | 26 GENES | NO | MICRODEL/DUP SYND | YES | 1 | 0 | 0 |
| | 9 | ASD | M | Del | 77.79 kb | chr9:9,598,565-9,691,922 | Father | PTPRD | NO | MR/DD, ADHD | YES | 1 | 0 | 0 |
| | 10 |
Psychomotor delay, AF |
M | Del | 25.45 kb | chr7:146,067,147-146,092,598 | Mother | CNTNAP2 | NO | AUTISM | YES | 1 | 0 | 0 | | Dup | 41.69 kb | chr16:8,715,900-8,757,596 | Father | ABAT (GABA METABOLISM) | NO | MR/DD | NO | 1 | 0 | 0 |
| | 11 |
MR, AF |
M | Del | 1.07 Mb | chr3:197216353-198287118 | Affected father | numerous | NO | 3q29 microdeletion syndrome | YES | 1 | 0 | 0 | | Del | 132 kb | chr4:124119791-124251951 | Mother | SPATA5 | NO | WITH MR | YES | 1 | 0 | 0 |
| | 12 | MR, AF | F | Del | 428.4 kb | chr3:189499640-189928068 | de novo | LPP, hsa-mir-28 | NO | MR/DD | YES | 0 | 0 | 0 |
| | 13 | ASD | M | Del | 142 kb | chr9:28719400-28861226 | Father | has-mir-876 | NO | AUTISM/MR/DD | YES | 1 | 0.5 | 0 |
| | 14 |
MR, ASD |
M | Dup | 242 kb | chr4:74032829-74275631 | Mother | ANKRD17, OX18, COX18HS | NO | SPEECH DELAY | YES | 1 | 0 | 0 | | Del | 96.5 kb | chr1:239,357,689-239,454,247 | Father | MIR3123, RGS7 (neuronal exitability) | NO | MR/DD | NO | 1 | 0 | 0 |
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