Recurrence risks for isolated cases of nonsyndromic deafness

We present, in this paper, general formulae developed so as to permit the calculation of the recurrence risks for isolated cases of nonsyndromic deafness in the offspring of nonconsanguineous and consanguineous couples. We included, in all analyzed situations, the following factors: (a) a generic degree of parental consanguinity; (b) a variable proportion of environmental (non-genetic) cases of the defect, so that the formulae can be easily applied to populations with any epidemiological profile; (c) a variable number of normal sibs of the propositus. Besides presenting the logic and the detailed derivation of all original formulae, we present tables for immediate use, with the numerical values of the recurrence risks as a function of the variables mentioned above.

Atualizacao em genetica da surdez nao-sindromica / Atualization in genetics of nonsyndromic hereditary deafness

A surdez nao-sindromica e uma condicao altamente heterogenea, com inumeros genes de locos diferentes interferindo no desenvolvimento e na fisiologia da audicao...