| Autor: |
Gilchrist, Dawna M., Hall, Judith |
| Předmět: |
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| Zdroj: |
Canadian Medical Association Journal (CMAJ); 10/29/2002, Vol. 167 Issue 9, p1021-1029, 9p, 1 Diagram |
| Abstrakt: |
Abstract MANY GENETIC DISORDERS DO NOT MANIFEST themselves until the adult years. Such disorders often involve multiple genetic factors interacting with multiple environmental factors, over time, to produce a phenotype. This paper reviews the modes of inheritance of genetic disorders and describes the types of genetic testing that are currently available. It offers clues that should lead physicians to suspect that an adult patient might have a genetic disorder and raises issues that should be considered in counselling the patient about genetic testing. Resources for patients and their family physicians are also discussed. Case A 35-year-old man, who is a new patient, presents at your office complaining of the insidious onset of weakness and clumsiness over the last 2 years. As you greet the patient, you note that his face seems somewhat "droopy" and expressionless. He has difficulty letting go of your handshake. Before he sits down, he tells you that this is a family problem; his sister, mother, maternal uncle and maternal grandfather are similarly affected. The family wonders whether this might be a hereditary problem, but no one has yet sought genetic diagnosis. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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