title: [Genetically determined hearing defects in childhood].
abstract: 20-60% of all hearing disturbances are of genetic origin (own investigations: 30%). The genetically determined hearing disorders are mainly monogen (in most cases autosomal recessive). The detection of heterozygous carriers with normal hearing is very important for optimal genetic counselling. We tried to develop an audiological test for detecting the heterozygous status in autosomal recessive deafness.
mesh_terms: D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005799:Genes, Dominant; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006311:Hearing Disorders / Q000235:genetics*; D006320:Hearing Tests; D006801:Humans
vernacular_title: Genetisch determinierte Hördefekte im Kindesalter.