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Table 1 Samples entering in the retrospectives and prospective MLPA study

From: MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

MALES Retrospectives Prospectives Total
Normal 17 94 111
Premutation 1 - 1
Full Mutation 23 4 27
Size Mosaicism (Pre/Full) 1 - 1
Methylation Mosaicism 1 - 1
FMR1-FMR2 deletion 1 - 1
TOTAL 44 98 142
FEMALES Retrospectives Prospectives Total
Normal 4 8 12
Premutation 1 5 6
Full Mutation 5 7 12
TOTAL 10 20 30
CVS MALE Foetuses Retrospectives Prospectives Total
Normal 6 1 7
Full Mutation 4 - 4
TOTAL 10   11