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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 (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).