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

Forfatter(e)
Aia Elise Jønch1, Karen Grønskov2, 3, 4, Jytte Merete Carlsen Lunding5, Jørgen E. Nielsen6, 7 & Karen Brøndum-Nielsen1 1) Klinisk Genetisk Klinik, Kennedy Centret, Juliane Marie Centret, Rigshospitalet 2) Medicinsk Genetisk Laboratorium, Kennedy Centret, Juliane Marie Centret, Rigshospitalet 3) Center for Anvendt Human Molekylærgenetik, Kennedy Centret, Juliane Marie Centret, Rigshospitalet 4) Institut for Cellulær og Molekylær Medicin (ICCM), Det Sundheds-videnskabelige Fakultet, Københavns Universitet 5) Center for fragilt X, Kennedy Centret, Juliane Marie Centret, Rigshospitalet 6) Nationalt Videnscenter for Demens, Afsnit for Neurogenetik, Neurocentret, Rigshospitalet 7) Institut for Cellulær og Molekylær Medicin (ICCM), Neurogenetisk Sektion, Københavns Universitet Ugeskr Læger 2014;176:V02140099
Reference: 
Ugeskr Læger 2014;176:V02140099
Blad nummer: 
Sidetal: 
2461-2465
Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders
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.
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