European Human Genetics Conference 2022, Vienna, Avusturya, 10 - 14 Haziran 2022, ss.1111
Repetitions of trinucleotide “CGG” in FMR1 gene account for diseases such as Fragile-X syndrome
(FXS), Fragile-X Tremor Ataxia Syndrome (FXTAS), Fragile-X associated primary ovarian insufficiency
(FXPOI) & diminished ovarian reserve(FXDOR), intellectual disability, subfertility or infertility. In this
study, we aim to make retrospective reviews on FMR1 mutation in female patients forwarded to our
clinic for genetic analysis between 2014 & 2021.