Fragile X syndrome

Reem Rafik Al’Olabya, Flora Tassone

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

In this chapter we aim at highlighting one of the most common inherited disorder causing intellectual disabilities: fragile X syndrome. We describe the history, etiology, prevalence and list the many clinical manifestations observed in the disorder. We also discuss the contribution of the lack of FMRP to the development of different pathological/clinical phenotypes. Finally, we give an overview on the diagnostic techniques and management strategies.

Original languageEnglish (US)
Title of host publicationThe Curated Reference Collection in Neuroscience and Biobehavioral Psychology
PublisherElsevier Science Ltd.
ISBN (Electronic)9780128093245
DOIs
StatePublished - Jan 1 2016

Keywords

  • CGG repeats
  • FMR1
  • Fragile X syndrome
  • Full mutation
  • Neurodevelopmental disorder
  • Premutation

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Al’Olabya, R. R., & Tassone, F. (2016). Fragile X syndrome. In The Curated Reference Collection in Neuroscience and Biobehavioral Psychology Elsevier Science Ltd.. https://doi.org/10.1016/B978-0-12-809324-5.23210-0