| aCGH | array comparative genomic hybridization |
| CNVs | copy number variants |
| DNA | deoxyribonucleic acid |
| FISH | fluorescence in situ hybridization |
| GTG | G-banding by Trypsin and Giemsa |
| Hi-C | high-throughput sequencing based chromosome conformation capture techniques |
| ISCN | International System for Human Cytogenomic Nomenclature |
| Mb | megabasepair |
| MLPA | multiplex-ligation dependent probe amplification |
| PCR | polymerase chain reaction |
| Prof. | professor |
| Q-banding | Quinacrine based banding of chromosomes |