Article
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clinical chemistry - 1 Feb 2016
Aliaga Solange M, Slater Howard R, Francis David, Du Sart Desiree, Li Xin, Amor David J, Alliende Angelica M, Santa Maria Lorena, Faundes Víctor, Morales Paulina, Trigo Cesar, Salas Isabel, Curotto Bianca, Godler David E
Abstract excerpt
BACKGROUND: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<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. METHODS: We used methylation-specific quantitative melt analysis...
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