title: [Non-syndromic familial deafness. Review and genetic study].
abstract: Many cases of hearing impairment are of genetic origin. Non-syndromic recessive transmission is the most frequent form. A genetic study was made of cases of non-syndromic familial hearing impairment seen in our service. The pattern of Mendelian inheritance was studied in the disorders associated with deafness. Four families had non-syndromic deafness and autosomal inheritance (3 dominant and one recessive) and one had a probable sex-linked inheritance. Genetic counseling was given and guidelines were created after reviewing the literature.
authors.affiliation: Hospital Universitario de Tarragona Joan XXIII.
authors.forename: H
authors.initials: H
authors.lastname: Guiral
authors.forename: J C
authors.initials: JC
authors.lastname: Flores
authors.forename: J
authors.initials: J
authors.lastname: Risco
authors.forename: E
authors.initials: E
authors.lastname: Figuerola
authors.forename: F
authors.initials: F
authors.lastname: Pellicer
mesh_terms: D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006309:Hearing / Q000502:physiology; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome
vernacular_title: Sorderas familiares no sindrómicas. Revisión y estudio genético.