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Figure 1 | Molecular Cytogenetics

Figure 1

From: Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

Figure 1

FISH mapping of the 15p bkp (A, B, C, D). A) The D15Z1 satellite III probe targeting the 15p bkp gave a signal (green) on both derivative chromosomes 15 and 16 (arrowed); the beta satellite probe (RPC1-98 C19) gave a signal (blue) only on der(16) (arrowed); and the GABRB3 probe targeted both 15q chromosomes (red). B) The rDNA probe gave a signal on der(16). C) FISH of α-satellite D15Z3 (green) and D15Z4 (red) probes. D) Ideograms showing schematic FISH results concerning both derivative chromosomes of t(15;16) in comparison with normal chromosomes 15 (left) and 16 (in yellow on right). The red circle represents the NOR probe signals, the purple circle the beta satellite signals, the blue circle the satellite III signals, and the red and green circles (merged to yellow) the alpha satellite probe signals. FISH characterisation of the 16q bkp (E, F, G, H). E) The CTD-3056I17 probe only gave a signal on der(16); F) The CTD-2027D24 probe gave a signal on both derivative chromosomes; G) The long-range PCR probe gave a signal only on der(16); H) Physical map of chromosome 16q containing the bkp: the red arrows point to the bkp region. The scale refers to the February 2009 human draft sequence (hg19) from the UCSC genome browser.

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