Anlaegsbaerere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer
Sammanfattning
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.