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Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
Resumo
MENENDEZ, Ibis; PONCE DE LEON, Maribel; CARRILLO, Blanca e GIL, Jorge L.. Sorderas neurosensoriales no sindrómicas: Análisis de la herencia en 10 familias. Rev Cubana Pediatr [online]. 1998, vol.70, n.2, pp. 92-99. ISSN 1561-3119.
The pedigress of 10 examiness affected with non syndrome neurosensorial deafness of familial appearance were erported. The genetical analysis made allowed to recognize the clear segregation of a sale gene of deafness in 7 families (3 recessive autosomal, 2 dominant autosomal, 1 linked to cromosome X, and 1 with mitochondrial heredity). In the other 3 hamilies the analysis was difficult and the recessive heredity was suggested as the most probable, based mainly on the characteristics of auditive loss (congenital, bilateral, severe or deep). In general, the recessive autosomal deafness was the most common. It was corroborated that these studies are usually complicated due to the great heterogeneity that the non syndromic neurosensorial deafness may present at all levels.
Palavras-chave : DEAFNESS [genetics].