RESUMO
Providencia is a small island located in the Caribbean Ocean, northwest of Colombia with an unusually high frequency of individuals with hearing loss (5 in 1,000) is present. The hearing loss in the island was characterized as non-syndromic autosomal recessive deafness accounting for 47% (8/17) of the deaf population, Waardenburg Syndrome (deafness associated with pigmentary anomalies) for 29% (5/17), and the remaining 24% (4/17) are cases of sporadic non-syndromic deafness. For appropriate genetic counseling a complete pedigree of families with deaf individuals was constructed. The 35delG mutation in GJB2 gene, which encodes connexin 26 (Cx26), is responsible for the deafness observed in the 8 individuals with autosomal recessive non-syndromic hearing loss. The deaf individuals with Waardenburg Syndrome and the sporadic cases did not have this mutation. Therefore, we present here an atypical case of an isolated community with at least two different genetic etiologies for deafness: non-syndromic genetic deafness caused by the 35delG mutation in the GJB2 gene and deafness associated with Waardenburg Syndrome not related to GJB2. In a small and isolated population, it is feasible to assume that the deafness is caused by the same factor; however, Providencia is an atypical case. Therefore, it is extremely important to define the exact etiology of deafness in each case, since different etiologies require different genetic counseling.
Assuntos
Aberrações Cromossômicas , Deleção Cromossômica , Conexinas/genética , Análise Mutacional de DNA , Surdez/genética , Genes Recessivos/genética , Aconselhamento Genético , Genética Populacional , Síndrome de Waardenburg/genética , Adulto , Mapeamento Cromossômico , Colômbia , Conexina 26 , Diagnóstico Diferencial , Feminino , Efeito Fundador , Pool Gênico , Genótipo , Humanos , Masculino , Linhagem , FenótipoRESUMO
El carcinoma escamoso de cavidad oral es una enfermedad que afecta fundamentalmente al adulto mayor relacionándose etiológicamente al uso de tabaco y consumo de alcohol. Caso clínico: paciente de 15 años con lesión ulcerada del borde derecho lingual. Biopsia: carcinoma escamoso. Se opera realizándose hemiglosectomía, disección cervical supraomohiodea más reparación con colgajo de trapecio. Existen 14 casos publicados en la literatura mundial de carcinoma escamoso lingual en pacientes menores de 15 años. En algunos de ellos se asocia a otras enfermedades genéticamente heredables