A. Levymozziconacci et al., I(18Q) IN AMNIOTIC AND FETAL CELLS WITH A NORMAL KARYOTYPE IN DIRECT CHORIONIC VILLUS SAMPLING - CYTOGENETICS AND PATHOLOGY, Prenatal diagnosis, 16(12), 1996, pp. 1156-1159
A case of false-negative discrepancy between results of chorionic vill
i (direct preparation) and those of fetal tissue with an isochromosome
18q [i(18q)] in amniotic cells and fetal blood is reported. Fluoresce
nce in situ hybridization (FISH) confirmed this uncommon chromosomal r
earrangement. The fetus showed cyclopia and multiple congenital anomal
ies which have never been reported in cases of i(18q).