Brazilian Journal of Probability and Statistics

Test, estimation and model comparison for the meiosis I nondisjunction fraction in trisomies

Vanessa L. Silva and Rosangela H. Loschi

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Trisomies are numerical chromosomal anomalies (aneuploidies) which are common causes of mental retardation, pregnancy losses and fetal death. The determination of the meiosis I nondisjunction fraction plays an important role in the identification of possible factors which could generate such aneuploidies. In this article, more flexible misclassification models for the number of peaks in a polymorphic locus of trisomic individuals are considered. They are compared to some others proposed in the literature. Estimation and tests for the nondisjunction fraction in meiosis I and for the misclassification errors are introduced extending previous works. Using the Decision Theory approach, we also build a criterion for making decisions under Jeffreys and Pereira–Stern tests. We apply the results to Down Syndrome data that is the most prevalent trisomy in humans.

Article information

Braz. J. Probab. Stat., Volume 26, Number 2 (2012), 123-148.

First available in Project Euclid: 23 January 2012

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Aneuploidy Bayes estimator Bayes tests DIC meiosis misclassification


Silva, Vanessa L.; Loschi, Rosangela H. Test, estimation and model comparison for the meiosis I nondisjunction fraction in trisomies. Braz. J. Probab. Stat. 26 (2012), no. 2, 123--148. doi:10.1214/10-BJPS125.

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