Fig. 2: Triplet repeat primed PCR results. | Genetics in Medicine

Fig. 2: Triplet repeat primed PCR results.

From: Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Fig. 2

Triplet repeat–primed polymerase chain reaction (TP-PCR) using a two-primer system (a) and a three-primer system (b). (a) Top panel: female with 20 and 31 CGG repeats. Middle panel: male with 103 CGG repeats. Bottom panel: male with size mosaicism from ~140 to 800 CGG repeats (inset: reduced y-axis to better visualize baseline). (b) Left panel: male with 32 CCG repeats. Middle panel: female with 20 and 64 CGG repeats. Right panel: female with 29 and >200 CGG repeats.

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