Methodology Report
Methyl-CpG-Binding PCR of Bloodspots for Confirmation of Fragile X Syndrome in Males
Table 1
Molecular testing of 1399 males suspected of having fragile X syndrome.
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Methylation (+) and Methylation (–): presence and absence of methylated FMR1 promoter, respectively; SBH: Southern blot hybridization; MB-PCR: methyl-CpG-binding PCR; §: of which 60 cases were randomly selected for the blinded test; *: all cases included for the blinded test; #: SBH was performed using resubmitted venous blood samples. |