TABLE 3

Fragile X Testing Results

Study IDFMR1 Test ResultAge, y/moGenderCGG Repeat No.MethylationParent of OriginKaryotype ResultCMA Result
ASD-09-020Female premutation2/6F69; 32NormalPaternalXX,461.6 Mb maternal duplication at Xp22.31
ASD-09-021Female premutation2/0F56; 46NormalUnknownXX,46Normal
ASD-09-022Male full mutation2/6M200AbnormalMaternalXY,46Normal
ASD-09-023Female mosaic for full mutation and premutation5/1F>200; 59AbnormalUnknownXX,46Normal
  • Normal alleles: ∼5 to 40 repeats; intermediate alleles (also termed “gray zone”): ∼41 to 58 repeats; premutation alleles: ∼59 to 200 repeats; full mutation alleles: >200 repeats; methylation of the FMR1 promoter region typically occurs in full mutation alleles, resulting in silencing of gene expression.