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Nya rön om fragil X-syndromet komplicerar genetisk vägledning. Sjukdomsgenen orsakar fler symtom än vad som tidigare varit känt

Kristoffersson, Ulf LU ; Wahlstrom, Jan and Lynoe, Niels (2005) In Läkartidningen 102(44). p.3232-3236
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... (More)
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. (Less)
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published
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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
in
Läkartidningen
volume
102
issue
44
pages
3232 - 3236
ISSN
0023-7205
language
English
LU publication?
yes
id
f05ba0e9-fee8-44fe-b195-92332e506013 (old id 148904)
alternative location
http://ltarkiv.lakartidningen.se/artNo30900
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16329454&dopt=Abstract
date added to LUP
2007-07-08 11:17:45
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2016-04-16 05:34:29
@article{f05ba0e9-fee8-44fe-b195-92332e506013,
  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<br/><br>
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.},
  author       = {Kristoffersson, Ulf and Wahlstrom, Jan and Lynoe, Niels},
  issn         = {0023-7205},
  keyword      = {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},
  language     = {eng},
  number       = {44},
  pages        = {3232--3236},
  series       = {Läkartidningen},
  title        = {Nya rön om fragil X-syndromet komplicerar genetisk vägledning. Sjukdomsgenen orsakar fler symtom än vad som tidigare varit känt},
  volume       = {102},
  year         = {2005},
}