Technical Standards and Guidelines for Huntington Disease Testing
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چکیده
منابع مشابه
Huntington ' s disease : who decides ? Selection for presymptomatic testing for
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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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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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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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2004
ISSN: 1098-3600,1530-0366
DOI: 10.1097/01.gim.0000106165.74751.15