Human reciprocal translocations: is the unbalanced mode at birth predictable?
Two methods of prediction for the risk of unbalance at birth were tested on a large data base of reciprocal translocation (1376 families): the pachytene diagram predictive method (PDP method) and the discriminant method (D method). These method succeeded in correctly predicting the segregation mode in 66% of the data for the PDP method and in 80% of the data for the D method. The quality of chromosome material (in particular R bands) must be taken into account for more accurate prediction. Some difficulties still exist in predicting the 3:1 tertiary segregation mode, which can frequently be incorrectly classified as the adjacent 1 mode.
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Genetics Laboratory, Medical School, Joseph Fourier University, Grenoble, La Tronche, France.
Cohen
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Mermet
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Demongeot
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Jalbert
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D006801:Humans; D011237:Predictive Value of Tests; D012306:Risk; D013223:Statistics as Topic / Q000379:methods; D014178:Translocation, Genetic