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Langer, S; Fauth, C; Rocchi, M; Murken, J; Speicher, MR.
AcroM fluorescent in situ hybridization analyses of marker chromosomes.
Hum Genet. 2001; 109(2):152-158 Doi: 10.1007/s004390100571 (- Case Report)
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Leading authors Med Uni Graz: Speicher Michael
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Abstract:: The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for their rapid and detailed analyses. A new strategy is presented, which allows the elucidation of the composition of SMCs in one or two hybridizations. One hybridization, termed AcroM-FISH, involves a newly generated probe mix, which consists of painting probes for all acrocentric chromosomes, centromere probes for chromosomes 13/21, 14/22, 15, and a probe specific for rDNA, each labeled with a specific combination of fluorochromes. This probe mix is sufficient to characterize approximately 80% of all SMCs. For the other 20% of SMCs, chromosomes can be analyzed in a second hybridization by multicolor karyotyping, for example, multiplex FISH (M-FISH), to check for the presence of euchromatin of other chromosomes. The potential of AcroM-FISH was tested in various applications.
Find related publications in this database (using NLM MeSH Indexing): Adult -; Centromere -; Child, Preschool -; Chromatin - genetics; Chromosome Aberrations - diagnosis; Chromosome Banding - diagnosis; Chromosome Disorders - diagnosis; Chromosome Painting - methods; Chromosomes, Human - genetics; DNA, Ribosomal - chemistry; Fluorescent Dyes - diagnostic use; Genetic Markers - diagnostic use; Humans - diagnostic use; In Situ Hybridization, Fluorescence - diagnostic use; Karyotyping - methods; Male - methods; Nucleic Acid Probes - methods; Sensitivity and Specificity - methods