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Table. 3.

Table. 3.

Mosaicism cases in fragile X syndrome

Case No. Sex FA SB TP-PCR
1 M Not amplified 156, 436, 951 156 and two other peaks in > 200
2 M Not amplified 120, 623 120 and two other peaks in > 200
3 M Not amplified 351, 563, 897 three peaks in > 200
4 F 30 30, 83, 93 30, 88, 93
5 F 29 30, 160, 204* 28, 175 and another peak in > 200

*SB band directing a repeat number of 204 showed a broad smeared band spectrum due to an unmethylated FM allele.

Abbreviations: FA, fragment analysis; TP-PCR, triplet repeat primed PCR; SB, Southern blotting; FM, full mutation; M, male; F, female.

Ann Lab Med 2021;41:394~400 https://doi.org/10.3343/alm.2021.41.4.394

© Ann Lab Med