[Non-syndromic familial deafness. Review and genetic study].
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.
Guiral
H
H
Hospital Universitario de Tarragona Joan XXIII.
Flores
J C
JC
Risco
J
J
Figuerola
E
E
Pellicer
F
F
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
Sorderas familiares no sindrómicas. Revisión y estudio genético.