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.

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A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q23-25

Article Abstract:

Cerebral palsy of the genetic type has a higher incidence in more inbred populations. Consanguineous families with more than one child affected by symmetrical spastic cerebral palsy have been clinically characterized with the goal of finding recessive genes that bring on the condition. Eight families were studied and a proportion of autosomal recessive symmetrical spastic cerebral palsy mapped to chromosome 2q24-25.

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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.

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