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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion

Fig. 2

Results of our cytogenetic and molecular studies. a CMA plot showing the 14.7-Mb deletion of Yq11 (ChrY: 14,064,952-28,766,705, GRCh37). b CMA plot showing the 10.8-Mb duplication of 17p12p11.2 (Chr17:10,701,287-21,504,890, GRCh37). c Partial G-band karyotype obtained from peripheral lymphocytes, with 600 GTG bands showing dup(17)(p11.2p12) and d) del(Y)(q11). e Complete painting of chromosome 17 (green fluorochrome) and the Y chromosome (orange fluorochrome) were performed using Vysis probes (Vysis, USA). f MLPA analysis of the PMP22 gene (SALSA® MLPA® P033-B4 CMT1 probemix; MRC Holland, Amsterdam, The Netherlands), where our patient shows complete duplication of the PMP22 gene plus the nearby ELAC2, COX10, TEKT3 and DRC3 genes

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