Chromosomal mosaicism on amniotic interphase nuclei detected by multiprobe FISH

J Appl Genet. 2003;44(4):557-9.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amniotic Fluid / cytology*
  • Cell Nucleus / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Interphase / genetics
  • Male
  • Mosaicism / genetics*
  • Polyploidy
  • Pregnancy