Fragile X syndrome

Reem Rafik Al’Olabya; Flora Tassone

doi:10.1016/B978-0-12-809324-5.23210-0

Fragile X syndrome

Reem Rafik Al’Olabya, Flora Tassone

Biochemistry and Molecular Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	The Curated Reference Collection in Neuroscience and Biobehavioral Psychology
Publisher	Elsevier Science Ltd.
ISBN (Electronic)	9780128093245
DOIs	https://doi.org/10.1016/B978-0-12-809324-5.23210-0
State	Published - 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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AB - 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.

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KW - Full mutation

KW - Neurodevelopmental disorder

KW - Premutation

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ER -

Fragile X syndrome

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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