Resumo

AGUILAR, Joenith; BACALLAO-GUERRA, Jorge; BACALLAO-GALLESTEY, Jorge  e  MORALES, Estela. Estimating the risk for unbalanced chromosomal aberrations in the offspring from translocation-carrying parents. Biotecnol Apl [online]. 2011, vol.28, n.3, pp. 156-160. ISSN 1027-2852.

Reciprocal and Robertsonian translocations are structural chromosomal aberrations that can produce unbalanced gametes during meiosis. In some cases, these imbalances lead to an offspring with multiple malformations. The purpose of this study was to propose and evaluate a methodology to estimate the risk of live offspring with unbalanced chromosome aberrations (LOUCA) from parents carrying a reciprocal or Robertsonian translocation. The methodology is based on comparing the results from several widely known regression methods: multiple linear, logistic and Poisson regression. Predictive accuracy was evaluated on a database containing information on 41 families of translocations carriers from three Cuban provinces. The results yielded by the three models were quite consistent regarding variable selection (presence of chromosome 9, chromosome 21 and the existence of breaking points in the short arms of the chromosomes involved) and risk estimation. There was a 80% overlap between the classifications produced by the three methods.

Palavras-chave : Risk estimation; translocations; Poisson regression; estimación del riesgo.

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