[Hereditary hearing loss: genetic counselling].
نویسندگان
چکیده
The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, the percentage of hereditary hearing loss is unknown. Genetic testing is the highest yielding test for evaluating patients with sensorineural hearing loss. The process of genetic counselling is intended to inform patients and their families of the medical, psychological and familial implications of genetic diseases, as well as the risks, benefits and limitations of genetic testing. The implementation of any genetic analysis must be always preceded by an appropriate genetic counselling process.
منابع مشابه
Hearing Impairments in Consanguineous Marriage
Consanguineous marriage is strongly favored in many large human populations. In the most parts of south Asia, consanguineous marriage account for 20% to over 50% of the general population. The effect of consanguinity on hereditary deafness has been well studied and documented. Many authors have suggested that approximately one half of sensory neural hearing loss in children can be attributed ...
متن کاملHereditary Hearing Loss: Genetic Counselling
The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, th...
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ورودعنوان ژورنال:
- Acta otorrinolaringologica espanola
دوره 63 3 شماره
صفحات -
تاریخ انتشار 2012