D. Vanopstal et al., A CHROMOSOME 21-SPECIFIC COSMID COCKTAIL FOR THE DETECTION OF CHROMOSOME-21 ABERRATIONS IN INTERPHASE NUCLEI, Prenatal diagnosis, 15(8), 1995, pp. 705-711
Fluorescent in situ hybridization (FISH) with a 21q11-specific probe (
CB21c1) consisting of three non-overlapping cosmids has been applied t
o interphase amniocytes of pregnancies at increased risk for fetal ane
uploidy (N=78) and to interphase lymphocytes, cultured and uncultured,
of patients referred for Down syndrome (N=19 and 28, respectively). I
n the uncultured amniocytes, six chromosome aberrations were detected:
three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), an
d a mosaic 46,XY/47,XY, +dic(21)(q11)/48,XY,idic(21)(q11), +del(21)(q1
1). In 15 cultured and 20 uncultured blood samples, FISH correctly dia
gnosed trisomy 21 (full or mosaic) at the interphase level, which was
confirmed in all cases by subsequent karyotyping. Because of specific
and strong signals in interphase nuclei, CB21c1 appears to be a useful
tool for the rapid detection of chromosome 21 abnormalities.