Mj. Pettenati et al., PRENATAL DETECTION OF CRI DU CHAT SYNDROME ON UNCULTURED AMNIOCYTES USING FLUORESCENCE IN-SITU HYBRIDIZATION (FISH), Clinical genetics, 45(1), 1994, pp. 17-20
Fluorescence in situ hybridization (FISH) with a chromosome-region-spe
cific DNA probe was used prospectively on uncultured amniocyte interph
ase cells to detect an unbalanced chromosome abnormality that resulted
in cri du chat or 5p- syndrome. Confirmation was performed by routine
cytogenetics.