ABSTRACT
Prenatal cytogenetic analysis at 11 weeks of gestation revealed an abnormal karyotype 47,XX,+mar in all metaphases obtained from a chorionic villi sample after 24 h culture. Karyotyping of amniotic fluid cells in the second trimester showed mosaicism 47,XX,+i(12p)/46,XX with 10% aneuploid cells. The pregnancy was terminated at 20 weeks of gestation on the patient's request. The aborted fetus showed typical manifestations of the Pallister-Killian mosaic aneuploidy syndrome. The identity of the supernumerary isochromosome 12p was proven by LDH isozyme electrophoresis using cultured fibroblasts and by nonradioactive in situ hybridization using a biotinylated set of chromosome 12-specific DNA probes.
Subject(s)
Abnormalities, Multiple/genetics , Aneuploidy , Chorionic Villi Sampling , Mosaicism/genetics , Adult , Face/abnormalities , Female , Fingers/abnormalities , Genetic Markers/genetics , Genitalia/abnormalities , Humans , Karyotyping , Pregnancy , SyndromeABSTRACT
A simple method is herein described which allows easy cytogenetic analyses of human tumor cells grown in semisolid media. The quality of the metaphases is relatively good, comparable with that reached by using conventional cytogenetic methods. Therefore, the demonstration of G-, Q-, C-bands, and nucleolus organizing regions (NOR) is possible without any problems. Its particular advantage, however, lies in the fact that single colonies can be removed under sterile conditions at different stages of cell culturing.
