Table 1.
Comparisons of the CpG10-12 FREE2 methylation for the male CVS and proband blood with the sex chromosome aneuploidy, typically developing female and male reference cohorts from earlier studies [3,17,25].
| Group | Tissue | N | CGG Size | CMA d | Meth. % | MAX % | MIN % |
|---|---|---|---|---|---|---|---|
| 46,XY controls a | Blood | 14 | <40 | 2 (±4) | 4 | 0 | |
| 46,XX b control | Blood | 35 | <40 | 27 (±10) | 38 | 16 | |
| 47,XXX c | Blood | 8 | N/A | 47,XXX | 43 (±8) | 47 | 38 |
| 45,Xo c | Blood | 11 | <40 | 45,X | 1 (±3) | 4 | 1 |
| (III:3) | CVS | 1 | 159, 408–625 | 46,XY | 3 | ||
| (II:2) | Blood | 1 | 30, 72, 285–768 | 45,X/46,XX/ 47,XXX |
8 |
Note: Methylation % for reference samples is expressed as mean (±2 standard deviations). a Convenience sample of consenting typically developing males. b De-identified sample of females recruited in a population FXS carrier screening study. c De-identified sample taken as part of fragile X cascade testing and routine molecular microarray testing/karyotyping as part of previous studies. d Chromosomal microarray-based molecular karyotyping and standard karyotyping for III:3.