Research Article
Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain
Table 6
Mutation expansion risks for carrier females of a PM or IA (including PN cases but not ICs).
| Maternal repeat size | Male offspring | Female offspring | Total | Number of premutation | Number of full mutation | % full mutation | Number of PM | Number of. full mutation | % full mutation | Number of PM | Number of full mutation | % full mutation |
| 44–49 | 0 | 0 | 0.0 | 0 | 0 | 0.0 | 0 | 0 | 0.0 | 50–54 | 4 | 0 | 0.0 | 6 | 0 | 0.0 | 10 | 0 | 0.0 | 55–59 | 11 | 0 | 0.0 | 33 | 3 | 8.3 | 44 | 3 | 6.4 | 60–69 | 22 | 7 | 24.1 | 60 | 11 | 15.5 | 82 | 18 | 18.0 | 70–79 | 26 | 24 | 48.0 | 53 | 30 | 36.1 | 79 | 54 | 40.6 | 80–89 | 18 | 31 | 63.3 | 36 | 30 | 45.5 | 54 | 61 | 53.0 | 90–99 | 2 | 21 | 91.3 | 12 | 28 | 70.0 | 14 | 49 | 77.8 | 100–109 | 2 | 22 | 91.7 | 5 | 22 | 81.5 | 7 | 44 | 86.3 | 110–119 | 1 | 7 | 87.5 | 0 | 15 | 100.0 | 1 | 22 | 95.7 | 120–129 | 0 | 10 | 100.0 | 2 | 7 | 77.8 | 2 | 17 | 89.5 | 130–139 | 0 | 13 | 100.0 | 1 | 12 | 92.3 | 1 | 25 | 96.2 | 140–149 | 0 | 3 | 100.0 | 0 | 5 | 100.0 | 0 | 8 | 100.0 |
150-159
| 0 | 3 | 100.0 | 1 | 2 | 66.7 | 1 | 5 | 83.3 | 160–169 | 0 | 5 | 100.0 | 0 | 7 | 100.0 | 0 | 12 | 100.0 | 170–199 | 1 | 6 | 85.7 | 0 | 3 | 100.0 | 1 | 9 | 90.0 |
| Total | 87 | 152a | 63.6a | 209 | 175a | 45.6a | 296 | 327 | 52.5 |
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aDifferences in the risk of expansion from PM to FM between males and females offsprings has statistical significance ().
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