Abstract
Aneuploidy is usually investigated by karyotyping lymphocytes from peripheral blood. However, in several aneuploidy syndromes, tissue mosaicism is frequently found. In Pallister-Killian syndrome, for example, the supernumerary isochromosome 12p is usually not seen in blood lymphocytes, although it occurs in up to 100% of fibroblasts. Therefore it is necessary to karyotype other tissues than blood. Traditionally, fibroblasts from a skin biopsy were used to analyze suspected mosaic karyotypes. However, this rather invasive procedure is often refused by patients. Therefore, interphase FISH on cells from buccal smears (Ohashi et al. 1993) or urinary sediment provides a useful noninvasive alternative method to analyze numerical chromosomal aberrations, if tissue mosaicism is suspected.
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© 2002 Springer-Verlag Berlin Heidelberg
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Rauch, A. (2002). Epithelial Cells from Buccal Smears and Urine. 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_6
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DOI: https://doi.org/10.1007/978-3-642-56404-8_6
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-47739-3
Online ISBN: 978-3-642-56404-8
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