Table 4.
Sensitivity and false positive rate for detection of sex chromosome aneuploidies in males
| Karyotype | Total Samples | Sensitivity | False Positive Rate |
|---|---|---|---|
| 47,XXY (KS) |
65 |
100% |
0% |
| 47,XYY |
29 |
100% |
0% |
| 48,XXXY |
4 |
100% |
0% |
| 48,XXYY | 58 | 100% | 0% |
Combination of results for DNAs isolated from buccal swabs (n = 29) or obtained from Colorado Children’s Hospital, UC Davis MIND Institute, Children’s Hospital Boston, Yale University and Coriell Institute (n = 338). One Coriell sample was omitted from this table due to its complicated mosaic karyotype: 47,XXY [17].ish X (DXZ1x2).ish Y (SRYx1)/47,XYY [28].ish X (DXZ1x1).ish Y (SRYx2)/46,XY [5].ish X (DXZ1x1).ish Y (SRYx1).