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Chromosomal mosaicism on amniotic interphase nuclei detected by multiprobe FISH

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Constantinou M., Zajac E., Kaluzewski B.
Journal of Applied Genetics
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2003
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vol. 44
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issue 4
557-559
EN
So far classical prenatal detection of chromosome aberrations has been limited to the evaluation of metaphase by means of time-consuming cytogenetic techniques. The MultiVision PGT test enables a simultaneous detection of aneuploidies of chromosomes 13 ,18, 21, X, and Y, even 24 h after amniocentesis. In the presented case, this test detected prenatally a chromosomal mosaicism 69,XYY[35]/46,XY[65]. This result was not confirmed after birth, by the same test on blood smear. The discrepancy is difficult to explain.
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