Mosaic karyotypes occur in at least 0.3–1% of clinical cases analyzed by banding cytogenetics. It is known that the mosaic pattern can vary greatly in different tissue types from the same patient. However, cytogenetic analysis is usually performed on a maximum of two different tissues from a child or adult, that is, peripheral blood and skin fibroblasts. Here, preparation protocols for four additional tissues that are easy to obtain are presented. The resulting preparations of interphase nuclei can be used in routine interphase FISH applications. Here, we summarize how oral mucosal swabs, skin abrasions, hair root cells, or urine should be treated prior to the FISH procedure.

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Characterization of Mosaicism in Different Easy-to-Acquire Body Tissues such as Buccal Smears, Skin Abrasions, Hair Root Cells, or Urine

  • Thomas Liehr

摘要

Mosaic karyotypes occur in at least 0.3–1% of clinical cases analyzed by banding cytogenetics. It is known that the mosaic pattern can vary greatly in different tissue types from the same patient. However, cytogenetic analysis is usually performed on a maximum of two different tissues from a child or adult, that is, peripheral blood and skin fibroblasts. Here, preparation protocols for four additional tissues that are easy to obtain are presented. The resulting preparations of interphase nuclei can be used in routine interphase FISH applications. Here, we summarize how oral mucosal swabs, skin abrasions, hair root cells, or urine should be treated prior to the FISH procedure.