Table 3.
Structural chromosomal abnormalities and pathogenic copy number variants.
| Case No. | Sample | Chromosome Results | Reflex Locus-Specific FISH Results | aCGH Results (hg19) |
|---|---|---|---|---|
| 14 | AF | 46,XX,t(4;19)(q25;q13.3)pat | ||
| 15 | AF | 46,XY,t(6;17)(p21.1;q24)dn | ||
| 16 | CV | 46,XX,t(9;21)(p23;q21)dn | ||
| 17 | AF | 46,XX,der(5)t(5;7)(p15.3;q21.1)mat | ||
| 18 | CV | 46,XY,dup(7)(p11.2p12.1)pat | arr 7p12.1p11.2(51,277,556-57,809,908)x3pat | |
| 19 | AF | 46,XX | nuc ish(PAFAH1B1x1,RAI1x2)[25] | arr 17p13.3p13.2(1,078,112-3,566,410)x1 |
| 20 | CV | 46,XY,der(22)t(16;22)(p12.2;q13.31)pat | ish der(22)t(16;22)(TBX1+,SHANK3-)[25] | arr 16p13.3p12.2(96,766-22,645,765)x3, 22q13.31q13.33(44,505,356-51,193,680)x1 |
| 21 | AF | 46,XY | ish del(22)(q11.21q11.21)(TBX1-,SHANK3+)[25] | arr 22q11.21(18,894,835-21,025,713)x1 |
| 22 | AF | 46,XX | nuc ish(ABL1x2,BCRx3)[200] | arr 22q11.21q11.23(21,808,950-24,643,108)x3dn |