Fragile X-associated conditions: Implications for the whole family

Andrew McKechanie (Lead Author), Angela Barnicoat, Iris Trender-Gerhard, Mandy Allison, Andrew Stanfield

Research output: Contribution to journalArticlepeer-review

Abstract

Fragile X syndrome (FXS) is a triplet-repeat expansion disorder of the X chromosome, with repeats of more than 200 (sometimes referred to as the full mutation) causing FXS and ~59-200 repeats (the so-called premutation) being responsible for a variety of clinical presentations. Clinicians in primary care should be aware of these conditions and in particular be vigilant for common comorbidities to allow for early treatment. In this article we will summarise the common issues for individuals with FXS and carriers of the premutation.
Original languageEnglish
Pages (from-to)460-461
JournalBritish Journal of General Practice
Volume69
Issue number686
DOIs
Publication statusPublished - 29 Aug 2019

Keywords

  • Fragile X Syndrome
  • Intellectual disability
  • general practice

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