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

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Názov: Nya rön om fragil X-syndromet komplicerar genetisk vägledning. Sjukdomsgenen orsakar fler symtom än vad som tidigare varit känt
Autori: Kristoffersson, Ulf, Wahlstrom, Jan, Lynoe, Niels
Zdroj: Läkartidningen; 102(44), pp 3232-3236 (2005) ; ISSN: 0023-7205
Informácie o vydavateľovi: Swedish Medical Association
Rok vydania: 2005
Zbierka: Lund University Publications (LUP)
Predmety: Medical Genetics and Genomics (including Gene Therapy), 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
Popis: 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.
Druh dokumentu: article in journal/newspaper
Jazyk: English
Relation: https://lup.lub.lu.se/record/148904; scopus:27744471927
Dostupnosť: https://lup.lub.lu.se/record/148904
Prístupové číslo: edsbas.9D9DBE0E
Databáza: BASE
Popis
Abstrakt: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.