| CES | Cat Eye Syndrome |
| CESRR | Cat Eye Syndrome Repeat Region |
| CGH | Comparative Genomic Hybridization |
| DGS | DiGeorge Syndrome |
| FISH | Fluorescence In Situ Hybridization |
| IVIG | Intravenous Immunoglobulin |
| IR | Intermediate Region |
| LCR | Low-Copy Repeats |
| MLPA | Multiplex Ligation-Dependent Probe Amplification |
| NAHR | Non-Allelic Homologous Recombination |
| OGM | Optical Genome Mapping |
| PATRRs | Palindromic AT-Rich Repeats |
| qPCR | Quantitative Polymerase Chain Reaction |
| SNP | Single Nucleotide Polymorphism |
| SCI | Severe Combined Immunodeficiency |
| VCFS | Velocardiofacial Syndrome |
| WES | Whole-Exome Sequencing |
| WGS | Whole-Genome Sequencing |