Table 1 –
Abbreviations Glossary
| Acronym | Expansion |
|---|---|
| aCGH | array-comparative genomic hybridization |
| AAMR | Alu-Alu mediated rearrangement |
| APR | A-phased repeat |
| BIR | Break-induced replication |
| BAEP | Brain Auditory Evoked Potential |
| CC | Corpus Callosum |
| CNV | Copy-number variant |
| CP | Cerebral palsy |
| DSB | Double stranded break |
| DD/ID | Developmental delay/intellectual disability |
| DR | Direct repeat |
| EEG | Electroencephalogram |
| EONDT | Early-onset neurological disease trait |
| FoSTeS | Fork stalling template switching |
| GERD | Gastroesophageal reflux disease |
| GI | Genomic instability |
| GQ | G-quadruplex |
| HSIR | Highly similar intrachromosomal repeat |
| IR | Inverted repeat |
| LCR | Low-copy repeat |
| LINE | Long interspersed nuclear element |
| LoF | Loss of function |
| MAF | Minor Allele Frequency |
| MMBIR | Microhomology-mediated break-induced replication |
| MMEJ | Microhomology-mediated end joining |
| MR | Mirror repeat |
| MRI | Magnetic resonance imaging |
| NADE | p75NTR-associated cell death executor |
| NHEJ | Non-homologous end joining |
| PMD | Pelizaeus Merzbacher disease |
| PVL | Periventricular leukomalacia |
| seDSB | single ended double stranded break |
| SINE | Short interspersed nuclear element |
| SNV | Single nucleotide variant. |
| SPG2 | Spastic paraplegia type 2 |
| SRO | Smallest region of overlap |
| SRS | Serial replication slippage |
| STR | Short tandem repeat |
| SV | Structural variation |
| WM | White matter |
| XCI | X-chromosome inactivation |
| Xq22-PLP1-DEL | Xq22 deletion that encompasses any part of PLP1 |