Table 5 Microdeletions/microduplications detected by BoBs assay
Karyotyping | Cases | BoBs | CMA | Pathogenicity | Pregnancy outcome |
|---|---|---|---|---|---|
46,XN | 2 | 22q11.2 microduplication | arr [hg19] 22q11.21(18,648,855-21,800,471)×3,3.1 Mb | pCNVs | Pregnancy termination |
46,XN | 2 | 22q11.2 microdeletion | arr [hg19] 22q11.21(18,648,855-21,800,471)×1,3.1 Mb | pCNVs | Pregnancy termination |
46,XN | 1 | 5p15.32p15.33 microdeletion | arr [hg19] 5p15.33p15.32(1,708,529-4,597,389)× 1,2.8 Mb | pCNVs | Pregnancy termination |
46,XX | 6 | Xp22.31 microduplication | arr [hg19] Xp22.31(6,455,151-8,135,568)×3,1.6 Mb | VOUS | Normal pregnancy(5)/ Pregnancy termination(1) |
46,XY | 3 | Xp22.31 microduplication | arr [hg19] Xp22.31(6,455,151-8,135,568)×2,1.6 Mb | VOUS | Normal pregnancy |
46,XX | 2 | Xp22.31 microdeletion | arr [hg19] Xp22.31(6,455,151-8,135,568)×1,1.6 Mb | pCNVs | Normal pregnancy(1)/ Pregnancy termination(1) |
46,XY | 2 | Xp22.31 microdeletion | arr [hg19] Xp22.31(6,455,151-8,135,568)×0,1.6 Mb | pCNVs | Normal pregnancy(1)/ Pregnancy termination(1) |
46,XY | 3 | Yq11.221q11.222 microduplication | arr[hg19]Yq11.222(20,618,887-21,028,944) ×2,410.0 kb | bCNVs | Normal pregnancy |
46,XX | 1 | Xq27.3 microdeletion | / | / | Normal pregnancy |
46,XY | 1 | Yp11.2 microduplication | / | / | Normal pregnancy |
Total | 23 |