Sentence examples for implications of premutations in from inspiring English sources

To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1).

It is difficult to recommend testing for these mutations routinely until the implications of finding premutations in females with EM are fully understood.

The aim of this study was to determine the prevalence of premutations in the FMR1 gene that cause primary ovarian insufficiency (POI) in a group of affected women.

Frequency of premutations in the total sample was 1.2%.

A review of the literature reported that the frequency of FMR1 premutations, in all combined ataxia cases, was 1.3% in men and 0.24% in women [ 17].

Q: implications of revenue coming in.

It is important to consider the potential difference in prevalence of premutation alleles in different populations as this could explain both the differences in premutation prevalence and the incidence of FXS among different studies.

POI affects ~1% of the general female population but has been reported in ~24% of premutation carriers in fragile X families.

Similar considerations apply to detection of premutation alleles in normal transmitting males.

Prenatal testing is not indicated for the pregnant partner of a male with a premutation since only transmission of premutations have been reported in all the numerous daughters of such fathers, with some exceptional cases of contraction to an allele in intermediate or normal range, but in no case has there been an expansion to a full mutation.

Results: We found three cases of fragile X premutations in women all belonging to the group with sporadic POF.