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Table 4 Sensitivity and false positive rate for detection of sex chromosome aneuploidies in males

From: Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies

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%

  1. Combination of results for DNAs isolated from buccal swabs (nā€‰=ā€‰29) or obtained from Colorado Childrenā€™s Hospital, UC Davis MIND Institute, Childrenā€™s Hospital Boston, Yale University and Coriell Institute (nā€‰=ā€‰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).