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 |