Summary of chromosomal aberrations detected in this study
| Patient | Previous karyotype | Confirmed karyotype by combined results of microarray CGH and FISH |
|---|---|---|
| WHS, Wolf-Hirschhorn syndrome; MR, mental retardation. | ||
| WHS | ||
| WHS1 | 46,XY,del(4)(p16)de novo | 46,XY.ish der(4)t(4;10)(p16;q26)de novo |
| WHS2 | 46,XY del(4)(p16) | 46,XY,der(4)t(4;5)(p15.3;q35.1)pat |
| WHS3 | 46,XX,del(4)(p16.1).ish del(4)(p16.3)(D4S96-) | Same as above |
| WHS4 | 46,XY,del(4)(p15.3) | Same as above |
| WHS5 | 46,XX,del(4)(p15.2)de novo | Same as above |
| MR | ||
| N02R245 | Normal | 46,XX.ish dup(12)(p13.33p13.33)mat |
| N03R003 | Normal | 46,XY.ish del(9)(q34.3)de novo |
| N03R017 | Normal | 46,XY.ish der(5)t(5;20)(p15.33;p13)pat |
| N03R088 | Normal | 46,XX,der(10)t(10;12)(q26.3;p13.1) |