Figure 4

Comparison between groups of FMR1 intron 1 CpG10–12 methylation output ratio (MOR) and sex-determining region Y ( SRY ) copy number in 95 blood DNA samples from control males and females and sex chromosome aneuploidy individuals 19–69 years of age. The sample consisted of 19 46,XY control males (<40 CGGs); 35 46,XX control females (<40 CGGs); 10 47,XXY Klinefelter syndrome males (karyotype confirmed); 1 48,XXYY male (karyotype confirmed); 4 47,XYY males (karyotype confirmed); 1 48,XXYY/47,XXY mosaic male (karyotype confirmed); 2 48,XXXY males (karyotype confirmed); 4 49,XXXXY males (karyotype confirmed); 8 47,XXX females (karyotype confirmed); and 11 45,X Turner syndrome females (karyotype confirmed). (a) CpG10–12 MOR values determined using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. (b) SRY/β-globin copy number ratios determined using real-time PCR. Each blue dot represents the output for a single sample; the box plots represent the median and interquartile range for each group; the red broken line represents the optimal threshold value for detection of full mutation females with verbal IQ < 70; the green broken line represents the optimal threshold value for detection of presence of X-inactivation; and the blue broken line represents the optimal threshold value for detection of presence of one or more copies of Y chromosome. Comparison with 46,XY controls, ##P < 0.01, ###P < 0.001; comparison with 46,XX controls, **P < 0.01, ***P < 0.001.