Genetic testing and counseling for hereditary neurological diseases in Mali
نویسندگان
چکیده
منابع مشابه
Genetic counseling in hereditary nonpolyposis colorectal cancer.
Recent identification of gene mutations responsible for hereditary nonpolyposis colorectal cancer (HNPCC) has made possible the presymptomatic diagnosis of at-risk family members. If DNA testing shows that a family member is a gene carrier, that individual's lifetime cancer risk is approximately 90%. If the test is negative, the family member's cancer risk drops to that of the general populatio...
متن کاملGenetic counseling and testing in families with hereditary nonpolyposis colorectal cancer.
BACKGROUND Genetic testing to refine cancer risk is available. However, little is known about factors affecting the uptake of testing for the most common hereditary colon cancer, hereditary nonpolyposis colorectal cancer. This study investigated attitudes, intentions, and uptake of genetic testing within newly identified families with hereditary nonpolyposis colorectal cancer. METHODS Cohort ...
متن کاملDevelopment and testing of the Hereditary Diseases and Genetic Testing (HD-GT) scale
Background Despite the expanding research base on the genetic testing process, limited insight exists on how personal understandings of hereditary cancer as well as situational and contextual factors influence an individual’s decisionmaking prior to and following predictive testing for hereditary non-polyposis colorectal cancer (HNPCC). The failure of existing scales to detect psychosocial and ...
متن کاملGenes and Genetic Testing in Hereditary Ataxias
Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where ...
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ژورنال
عنوان ژورنال: Journal of Community Genetics
سال: 2011
ISSN: 1868-310X,1868-6001
DOI: 10.1007/s12687-011-0038-0