Voiculescu I, Toder R, Back E, Osswald P, Schempp W
Institut für Humangenetik und Anthropologie der Universität Freiburg, Germany.
Clin Genet. 1993 Jun;43(6):318-20. doi: 10.1111/j.1399-0004.1993.tb03827.x.
An unbalanced de novo translocation t(18;22) leading to a severely malformed liveborn girl with 18p- syndrome is described. Using the chromosomal in situ suppression (CISS) hybridization technique on 4-year-old G-banded chromosome preparations, it could be demonstrated that the translocation chromosome is composed of the long arm including the centromere of a chromosome 22 and the long arm of a chromosome 18. Consequently, the patient described here has lost the short arm including the centromere of chromosome 18. The possibility of restudying cytogenetically unsolved cases in clinical cytogenetics using older G-banded chromosome preparations with the fluorescence in situ hybridization techniques is pointed out.
