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	152^a	63.6^a	209	175^a	45.6^a	296	327	52.5

 ^aDifferences in the risk of expansion from PM to FM between males and females offsprings has statistical significance (𝑃<0.001).