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FMR1 full mutations (FMs) (CGG expansion &gt;200) in males mosaic for a normal (&lt;45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, largely because the first-line PCR tests showing a normal or GZ allele are not reflexed to the second-line test that can detect FM.

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis