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Figure 3 | BMC Medical Genetics

Figure 3

From: Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

Figure 3

GTG-banded and FISH images from lymphocytes and buccal epithelial cells. Panels ( A- B) show karyotypes of peripheral blood lymphocytes demonstrating the 45,X/46,XX mosaicism. Panels ( C- E) show FISH analysis using CEP X Spectrum Orange/Y Spectrum Green Direct Labelled Fluorescent DNA probes from Abbott Molecular within of interphase nuclei of lymphocytes ( C- D) and buccal epithelial cells ( E). ( C) and ( E) show FISH interphase cells with one copy of the X chromosome (arrow). ( D) and ( E) show the presence of two copies of the X chromosomes (double arrows). Only representative cells with different karyotypes are shown here.

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