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.

Genetic aspects, Nervous system, Retinal degeneration, Mental retardation, Nerve degeneration

---

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.

United States, Research, Beliefs, opinions and attitudes, Hearing impaired, Hearing impaired persons, Genetic disorders, Deaf, Deaf persons

---

Similar abstracts:

• Abstracts: Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43
• Abstracts: Hereditary isolate renal magnesium loss maps to chromosome 11q23. Localization of the ICF syndrome to chromosome 20 by homozygosity mapping
• Abstracts: Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q
• Abstracts: The control of trunk Hox specificity and activity by Extradenticle. Linking asymmetric division to cell fate: teaching an old microbe new tricks
• Abstracts: Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. part 2 Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.