Table 2.
Genomic Rearrangements in Cases 1–6
| Rearrangement | Genomic Abnormality | Affected Genesa | |
|---|---|---|---|
| Case 1 | Simple | Simple duplication | CYP19A1, TNFAIP8L3, AP4E1 |
| Case 2 | Simple | Simple deletion | CYP19A1, GLDN, DMXL2 |
| Case 3b | Complex | Multiple deletions? | TMOD3, GLDN, DMXL2? |
| Case 4 | Complex | Multiple duplications and inversion | CYP19A1, GLDN, SEMA6D |
| Case 5 | Complex | Multiple duplications, deletion, and inversion | TMOD3, DMXL2, TMOD2, LYSMD2, SCG3 |
| Case 6 | Complex | Multiple deletions and inversion | CGNL1, CYP19A1 |
a
Genes involved in the deletion or duplication. Genes affected by copy-number-neutral inversions are not shown.
b
Genomic structure of the rearrangement in case 3 remains to be characterized.