Nya rön om fragil X-syndromet komplicerar genetisk vägledning. Sjukdomsgenen orsakar fler symtom än vad som tidigare varit känt
Author
Summary, in English
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.
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.
Department/s
Publishing year
2005
Language
English
Pages
3232-3236
Publication/Series
Läkartidningen
Volume
102
Issue
44
Links
Document type
Journal article
Publisher
Swedish Medical Association
Topic
- Medical Genetics
Keywords
- Adult
- Child
- Consensus
- English Abstract
- Female
- Fragile X Mental Retardation Protein: genetics
- Fragile X Syndrome: genetics
- Genetic Counseling: ethics
- Genetic Screening: ethics
- Humans
- Male
- Middle Aged
- Nerve Tissue Proteins: genetics
- Risk Factors
Status
Published
ISBN/ISSN/Other
- ISSN: 0023-7205