Fragile X-associated conditions: Implications for the whole family

Andrew McKechanie; Angela Barnicoat; Iris Trender-Gerhard; Mandy Allison; Andrew Stanfield

doi:10.3399/bjgp19X705425

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 journal › Article › peer-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 language	English
Pages (from-to)	460-461
Journal	British Journal of General Practice
Volume	69
Issue number	686
DOIs	https://doi.org/10.3399/bjgp19X705425
Publication status	Published - 29 Aug 2019

Keywords

Fragile X Syndrome
Intellectual disability
general practice

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title = "Fragile X-associated conditions: Implications for the whole family",

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.",

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AU - McKechanie, Andrew

AU - Barnicoat, Angela

AU - Trender-Gerhard, Iris

AU - Allison, Mandy

AU - Stanfield, Andrew

PY - 2019/8/29

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N2 - 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.

AB - 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.

KW - Fragile X Syndrome

KW - Intellectual disability

KW - general practice

U2 - 10.3399/bjgp19X705425

DO - 10.3399/bjgp19X705425

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JO - British Journal of General Practice

JF - British Journal of General Practice

SN - 0960-1643

IS - 686

ER -

Fragile X-associated conditions: Implications for the whole family

Abstract

Keywords

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