Research Article

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

Table 4

Results of the 5,062 molecular diagnostic tests performed in the 1105 different families (ICs and prenatal cases included).

FMMosaicsPMIADeletionsNormalTotal

Number of males969963514226922152
Number of females5414914876017572895

Total 15101451839a10231458a5057b

aThe sex was unknown in 1 premutation and in 9 normal cases. All were prenatal cases (see Table 5).
bIn 5 cases, the molecular status was not recorded in the database.