A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24
Article Abstract:
A novel recessively inherited neurodegenerative syndrome is characterized by severe mental retardation, tapetoretinal degeneration and spasticity. Nine individuals from a large extended Pakistani family are affected with this condition, which differs from other known disorders associated with pigmentary retinal degeneration . Based on autozygosity mapping, the condition is linked to chromosome 15q24 between markers D15S211 and D15S152.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Attitudes of deaf adults toward genetic testing for hereditary deafness
Article Abstract:
Genetic screening for hereditary deafness has met with resistance in adults who are hearing impaired. A survey showed that 55% of deaf adults believe that the negative aspects of genetic testing outweigh the positive ones, while 46% believe testing would devalue the hearing impaired. Nearly 30% said they would prefer their children to be deaf.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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