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

Författare

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.

Publiceringsår

2005

Språk

Engelska

Sidor

3232-3236

Publikation/Tidskrift/Serie

Läkartidningen

Volym

102

Issue

44

Dokumenttyp

Artikel i tidskrift

Förlag

Swedish Medical Association

Ämne

  • Medical Genetics

Nyckelord

  • 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/Övrigt

  • ISSN: 0023-7205