Nya rön om fragil X-syndromet komplicerar genetisk vägledning. Sjukdomsgenen orsakar fler symtom än vad som tidigare varit känt
The Swedish Medical Society’s Delegation for Medical Ethics held in October 2004 a workshop on the new ethical implications on genetic counselling in families where a premutation or mutation in the FMR1 gene was found. New research has revealed that premutation carrier women have an increased risk of premature ovarian failure, and, thus, their fertile sisters may be mutation carriers with an incre