Table 5 Complex rearrangements detected in the current study
Case | Cohort | Type | Chromosome(s) | Phenotype |
|---|---|---|---|---|
RD_P22 | Cohort 1 | DEL-NML-DEL | 5 | NDD |
RD_P54 | Cohort 1 | DEL-INV-DEL | 17 | NDD |
RD_P07 | Cohort 1 | DEL-NML-DEL-NML-DUP | 1 | NDD+ |
RD_P05 | Cohort 1 | DEL-DUP-DEL | 2 | Internal malformations |
RD_P26 | Cohort 1 | DEL-INV-DEL | 21 | NDD+ |
RD_P105 | Cohort 1 | DUP-NML-DUP | 7 | NDD |
RD_P106 | Cohort 1 | DUP-NML-DUP | 14 | NDD |
RD_P77 | Cohort 1 | DEL-T | 4, 7 | NDD+ |
RD_P393 | Cohort 2 | DEL-INV-DEL | 2 | Epilepsy |
RD_P405 | Cohort 3 | DUP-INS | 3, 13 | Growth retardation |
RD_P406 | Cohort 3 | DUP-INS | 4, 2 | NDD, microcephaly |
RD_P414 | Cohort 3 | Ring chromosome | 18 | NDD |