title: [New discoveries about the fragile X syndrome complicate genetic counseling. More symptoms than earlier known caused by the disease gene].
abstract: 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 increased risk of having a child with the fragile X syndrome. Premutation carrier males have after the age of 50 an increased risk of developing ataxia and cognitive dysfunctions. Accordingly, their daughters have a high risk of having a child with the fragile X syndrome. The ethical aspects of these issues were discussed at the workshop with suggestions on the way forward.
authors.affiliation: Universitetssjukhuset i Lund. Ulf.Kristoffersson@klingen.lu.se
authors.forename: Ulf
authors.initials: U
authors.lastname: Kristoffersson
authors.forename: Jan
authors.initials: J
authors.lastname: Wahlström
authors.forename: Niels
authors.initials: N
authors.lastname: Lynöe
mesh_terms: D000328:Adult; D002648:Child; D032921:Consensus; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000235:genetics*; D005817:Genetic Counseling / Q000941:ethics*; D005820:Genetic Testing / Q000941:ethics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D012307:Risk Factors
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; C497683:FMR1 protein, human