Chromosomal mosaicism on amniotic interphase nuclei detected by multiprobe FISH.
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.
Constantinou
Maria
M
Department of Medical Genetics, Medical University of Łódź, Łódź, Poland. majcon@kardio-sterling.lodz.pl
Zajac
Ewa
E
Kałuzewski
Bogdan
B
D000653:Amniotic Fluid / Q000166:cytology*; D002467:Cell Nucleus / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D011123:Polyploidy; D011247:Pregnancy