Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.
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.
Institute of Human Genetics, University of Aarhus, Denmark.
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CA
Brandt
T
T
Lyngbye
S
S
Pedersen
L
L
Bolund
U
U
Friedrich
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D015193:Chorionic Villi Sampling / Q000379:methods*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D002885:Chromosomes, Human, Pair 16; D005220:Fathers; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D015723:Gene Library; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic