Female Infertility
Fragile X Premutation (Female Carriers)
Women with 55–200 CGG repeats in FMR1 have a 20% risk of premature ovarian insufficiency and a 50% chance of passing the full mutation to sons.
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Overview
Overview
Women with 55–200 CGG repeats in FMR1 have a 20% risk of premature ovarian insufficiency and a 50% chance of passing the full mutation to sons.
Symptoms
Premature ovarian failure before 40
Irregular cycles in younger women
Anxiety / tremor in older carriers
Causes
1
Expansion of CGG repeat in FMR1 gene on X chromosomeHow It's Diagnosed
FMR1 CGG repeat sizing
AMH
Day 3 FSH
Family history assessment
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