[Possibilities for false-negative findings in trisomy 21 screening with FISH]

In approximately 5% of individuals with Down syndrome aneuploidy results from a chromosomal rearrangement. FISH analysis on chromosome metaphases and interphase nuclei of 5 individuals with Down syndrome carrying different types of chromosome 21 translocations demonstrated the diagnostic efficiency of this method. By use of different commercially available chromosome 21 specific probes we were able to show that only the cosmid probe specific for the Down syndrome critical region (DCR) in 22qll gave reliable results for interphase analysis of trisomy 21, while the use of chromosome 21 centromere- or of painting probes carry a high risk of a false-negative diagnosis in translocation trisomy 21.