Predictive testing for Huntington disease.
نویسندگان
چکیده
منابع مشابه
Perspectives towards predictive testing in Huntington disease.
OBJECTIVE Genetic counseling for individuals undergoing presymptomatic testing is lacking in India although testing is easily available. This has an impact on family members of Huntington's disease (HD), an autosomal dominant disease, wherein the age at onset of symptoms varies. AIM We examine if attitudes differ towards presymptomatic testing for HD amongst HD family members, physicians and ...
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I was interested to read the report of Goodship et al (J Med Genet 1995;32:746-8) of monozygotic (MZ) twins with a 22ql deletion who were discordant for cardiac defects. I have recently met a similar family where all the affected members have had a 22ql deletion detected by FISH. Twin 1 has a typical facial appearance of the velocardiofacial syndrome (figure) with nasal speech but no cardiac de...
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Authors’ Disclosures or Potential Conflicts of Interest: Upon manuscript submission, all authors completed the author disclosure form. Disclosures and/or potential conflicts of interest: Employment or Leadership: None declared. Consultant or Advisory Role: G.S. Baird, Beckman Coulter. Stock Ownership: None declared. Honoraria: None declared. Research Funding: None declared. Expert Testimony: No...
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We use novel data to study genetic testing among individuals at risk for Huntington disease (HD), a hereditary disease with limited life expectancy. Although genetic testing is perfectly predictive and carries little economic cost, pre-symptomatic testing is rare. Testing rates increase with increases in ex ante risk of having HD. Untested individuals express optimistic beliefs about their heal...
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Intermediate alleles (IAs) for Huntington disease (HD) contain 27-35 CAG repeats, a range that falls just below the disease threshold of 36 repeats. While there is no firm evidence that IAs confer the HD phenotype, they are prone to germline CAG repeat instability, particularly repeat expansion when paternally transmitted. Consequently, offspring may inherit a new mutation and develop the disea...
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ژورنال
عنوان ژورنال: Journal of Medical Ethics
سال: 1992
ISSN: 0306-6800
DOI: 10.1136/jme.18.1.47