A retrospective overview in female patients prediagnosed with FMR1 associated disorders

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Araci D. G., Peker A., Altiok Clark Ö., Manguoğlu A. E., Özekinci M., Uysal H., ...More

European Human Genetics Conference 2022, Vienna, Austria, 10 - 14 June 2022, pp.1111, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • City: Vienna
  • Country: Austria
  • Page Numbers: pp.1111
  • Akdeniz University Affiliated: Yes

Abstract

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.