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Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.
  1. C A Brandt,
  2. T Lyngbye,
  3. S Pedersen,
  4. L Bolund,
  5. U Friedrich
  1. Institute of Human Genetics, University of Aarhus, Denmark.

    Abstract

    We currently use direct and reverse chromosome painting in prenatal diagnosis. In a family with a subtle 12;16 translocation, adjacent 1 segregation was diagnosed in the first child, a boy, in whom symptoms compatible with partial trisomy 16p and partial monosomy 12q were seen. In the next pregnancy, a chorionic villus biopsy was tested using chromosome painting. Only by supplementing conventional cytogenetic methods with molecular cytogenetic techniques could the true karyotype be unequivocally determined. Reverse painting, using DOP-PCR amplified, flow sorted paternal derivative chromosomes as a DNA library to paint the chorionic villus cells, was especially informative.

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