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It is recognized that FMR1 premutation expansions are associated with premature ovarian failure POF , but the role of smaller repeats at the boundary of premutation and normal is less clear. We have therefore investigated the incidence of these intermediate sized FMR1 CGG repeats 35—58 repeats in a series of women ascertained because of menopause before the age of We found no significant difference in the incidence of intermediates in cases compared with controls.

Thus, we were unable to replicate previous studies showing a positive association, despite a significantly larger sample size. The definition of a premutation is somewhat arbitrary and is generally based on the stability of the repeat during meiotic transmission and the likelihood that the repeat will expand to a full mutation: the smallest repeat that has been shown to expand to a full mutation in one generation is 59 CGGs Nolin et al.

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Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

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Keywords: POF, CGG repeat, FMR1, intermediate to the Wessex Regional Genetics Service, Salisbury for chromosome analysis (n = ; our knowledge, the largest series reported to date and confirm previous evidence.

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