Abstract
In clinical cytogenetics, patients with somatic chromosomal mosaicism are present in about 0.3 to 1% of analyzed cases. Mosaic karyotypes in connection with gonosomes are the most frequent observation, presenting e.g. with karyotypes like 45,X[IO]/47,XXX[5]/46,XX[5] (unpublished case of an unfertile woman, Inst. of Human Genetics, Jena). However, autosomes can be involved, as well, as in a familial case with a supernumerary marker derived from chromosome 8, present in the peripheral blood of the father in 10% and in that of the two daughters in 97 and 98% of analyzed metaphase spreads (Rothenmund et al., 1997). Such kinds of mosaicism can easily be detected by interphase FISH using centromere-specific or locus-specific probes of the corresponding chromosomes.
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© 2002 Springer-Verlag Berlin Heidelberg
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Liehr, T. (2002). FISH on Hair Root Cells. In: Rautenstrauss, B.W., Liehr, T. (eds) FISH Technology. Springer Lab Manuals. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56404-8_7
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DOI: https://doi.org/10.1007/978-3-642-56404-8_7
Publisher Name: Springer, Berlin, Heidelberg
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