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Human reciprocal translocations: is the unbalanced mode at birth predictable?

作者信息

Cans C, Cohen O, Mermet M A, Demongeot J, Jalbert P

机构信息

Genetics Laboratory, Medical School, Joseph Fourier University, Grenoble, La Tronche, France.

出版信息

Hum Genet. 1993 Apr;91(3):228-32. doi: 10.1007/BF00218261.

Abstract

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.

摘要

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