Genetic analysis for early diagnosis of otorhinolaryngeal diseases
نویسنده
چکیده
Familiarity with the concepts and methods of human genetics is important in order to be able to perform genetic analysis. The grade of predictability of a genetic disease is partly given by formal genetics but also depends on the importance of the mutated gene for the phenotype.Possibilities for genetic analysis range from differential diagnosis to predictive diagnosis to prenatal diagnosis. After initial consultation in which the physician fully explains the procedure to the patient, it is mandatory that the patient give his full consent.This article summarises and evaluates current knowledge about genetic analysis of important otorhinolaryngeal diseases, including hereditary hearing disabilities, olfactory malfunction, hereditary tumorous diseases, hereditary syndromes and dysplasias. In addition, this article discusses genetic diseases that affect voice and speech, highlights the relevance of human genetic consultation and discusses the importance of embedding genetic analysis in medicine in general.
منابع مشابه
Genes and Diseases
The science of medical genetics is progressing rapidly. The practical importance of this progress should be considered by medical doctors. Both genetic and environmental factors are involved in the abnormail phenotypes considered diseases. The relative significance of the two factors varies from disease to disease. All diseases can be viewed as falling on a spectrum in this regard. Hereditary...
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