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One full mutation male was identified (>200 CGG repeats).
One full mutation case in our study, NICHD 1421, displayed robust FMR1 expression in addition to higher expression of FMR6 compared to other FM patients.
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Women with full mutations have a theoretical 50% chance of passing on the full mutation with each pregnancy.
Females with only one amplified band and males without a clear amplified PCR band (one case of a full mutation male newborn identified in this study) underwent the second screening PCR using a CGG primer as previously described [ 50, 55].
At the present time, the smallest repeat known to expand to a full mutation in one generation is 59 CGGs.
9 The smallest repeat size to expand to a full mutation in one generation is 59 repeats.
On average, about one-third to one-half of females who carry the full mutation is significantly affected with fragile X syndrome.
The smallest premutation that has been reported to expand to a full mutation allele in one generation had 59 CGG repeats [ 7].
It has also been demonstrated that the risk of expansion is related to the number of CGG repeats, with smaller alleles being less likely to expand to a full mutation than larger ones [ 5, 8].
Among the 14,207 newborns screened, one male (7,312 total males screened) was identified as having a full mutation allele at UCDMC.
Only one male newborn, out of the total 7,312 males screened, was found to have a full mutation at the UCDMC site.
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