CHROMOSOME RESEARCH, cilt.15, sa.1, ss.127, 2007 (SCI-Expanded)
Here we report a prenatal case with clonally present
different marker chromosomes with GTG banding in
multiple cell lines cultured from amniotic cells
obtained at 18 weeks of gestation. The amniocentesis
was performed because of an increased risk for
Down syndrome based on a first trimester screening
test but without ultrasonographically detected features. Fetal karyotype was 47õ50,XX,+mar1,
+mar2,+mar3[cp50]. CBG and NOR banding showed
that all markers had one centromere and no satellites.
One of the markers had an unstained region on both
arms with CBG banding. Both parents were found to
have normal karyotypes. FISH analysis by multiprobe
(cytocell) revealed marker chromosomes derived
from chromosome 3, 7, and 8. The pregnancy was
terminated after genetic counselling. The Fetus
presented a small ventricular septal defect, cliteromegaly, and pulmonary segmental defects on autopsy
examination following termination at 22 weeks of
gestational age. Cytogenetic analysis of skin fibroblasts confirmed these results.