A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p- syndrome.
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.
Voiculescu
I
I
Institut für Humangenetik und Anthropologie der Universität Freiburg, Germany.
Toder
R
R
Back
E
E
Osswald
P
P
Schempp
W
W
D000328:Adult; D001399:Azure Stains; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012189:Retrospective Studies; D013489:Suppression, Genetic; D013577:Syndrome; D014178:Translocation, Genetic
D001399:Azure Stains