Table 2.
Results of molecular and cytogenetic analyses of ten Chinese patients with WHS
| Patient number | G-band karyotype ≥400 bands | Array CGH analysis | MLPA analysis | |
|---|---|---|---|---|
| Boundaries of deletion (kb) | Size of deletion (Mb) | |||
| 1 | 46, XY | 71,552–2,691,306 | 2.62 | 4pdel |
| 2 | 46, XY | 71,552–5,036,718 | 4.97 | 4pdel |
| 3 | 46, XX | 71,552–5,506,588 | 5.44 | 4pdel |
| 4 | 46, XY, del(4)(p16) | 71,552–8,416,608 | 8.35 | 4pdel |
| 5 | 46, XX, del(4)(p16.1) | 71,552–14,631,433 | 14.56 | 4pdel |
| 6 | 46, XX, del(4)(p15.3) | 71,552–15,992,938 | 15.92 | 4pdel |
| 7 | 46, XX, del(4)(p15.3) | 71,552–17,320,084 | 17.25 | 4pdel |
| 8* | 46, XY | Not applicable | >2.00 | 4pdel |
| 9* | 46, XX | Not applicable | >2.00 | 4pdel |
| 10* | 46, XX | Not applicable | >2.00 | 4pdel |
*Array CGH test results were not available for patient 8, 9 or 10. Their deletion sizes were identified mainly by MLPA by calculating the range between probes. WHS: Wolf-Hirschhorn syndrome; MLPA: Multiplex ligation-dependent probe amplification; CGH: Comparative genomic hybridization.