Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

Aia Elise Jønch; Karen Grønskov; Jytte Lunding; Jørgen E Nielsen; Karen Brøndum-Nielsen

Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

Translated title of the contribution: Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders.

Aia Elise Jønch
, Karen Grønskov
, Jytte Lunding
, Jørgen E Nielsen
, Karen Brøndum-Nielsen

Abstract

Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical manifestations have been identified. We wish to make Danish physicians more aware of these conditions which we review in this paper.

Translated title of the contribution	Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders.
Original language	Danish
Journal	Ugeskrift for læger [online]
Volume	176
Issue number	26
ISSN	1603-6824
Publication status	Published - 23 Jun 2014

Cite this

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title = "Anl{\ae}gsb{\ae}rere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer",

abstract = "Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical manifestations have been identified. We wish to make Danish physicians more aware of these conditions which we review in this paper.",

author = "J{\o}nch, \{Aia Elise\} and Karen Gr{\o}nskov and Jytte Lunding and Nielsen, \{J{\o}rgen E\} and Karen Br{\o}ndum-Nielsen",

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day = "23",

language = "Dansk",

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T1 - Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

AU - Jønch, Aia Elise

AU - Grønskov, Karen

AU - Lunding, Jytte

AU - Nielsen, Jørgen E

AU - Brøndum-Nielsen, Karen

PY - 2014/6/23

Y1 - 2014/6/23

N2 - Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical manifestations have been identified. We wish to make Danish physicians more aware of these conditions which we review in this paper.

AB - Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical manifestations have been identified. We wish to make Danish physicians more aware of these conditions which we review in this paper.

M3 - Tidsskriftartikel

C2 - 25294575

SN - 1603-6824

VL - 176

JO - Ugeskrift for læger [online]

JF - Ugeskrift for læger [online]

IS - 26

ER -

Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

Abstract

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