| CAs | congenital abnormalities |
| CAS | childhood apraxia of speech |
| CGH | comparative genomic hybridization |
| CNVs | copy number variations |
| DLRS | derivative log ratio spread |
| EEG | electroencephalography |
| FISH | fluorescent in situ hybridization |
| ID | intellectual disability |
| ISCN | International System for Human Cytogenomic Nomenclature |
| IUGR | intrauterine growth restriction |
| MR/MRC | mental retardation and/or multiple congenital anomalies |
| NAHR | non-allelic homologous recombination |
| NDs | neurodevelopmental disorders |
| OMIM | online mendelian inheritance in man |
| SNP | single nucleotide polymorphism |
| SRO | smallest region of overlapping |
| WGD | whole genome duplication |