Evidence of a tandem amplification and heterozygous deletion at the <i>ZEB2</i> locus in proband 1.

<p>(A) Genomic landscape (from the UCSC Genome Browser, GRCh36/hg18, a ~2 Mb region spanning chr2:144000482–145945938 corresponding to all SNPs on the Affymetrix array from 144–146 Mb). (B) LogR ratio plot of amplification/deletion region for proband 1 and control (from the GRCh36/hg18, chr2:144000482–145945938). Vertical bars indicate the beginning and end of the amplification and deletion regions. Red line indicates a moving average. (C) Representative example of interphase FISH with labeled fosmid G248P8731F5 using lymphoblast cell lines derived from proband 1 and (E) an unaffected control. Note the presence of three copies in the patient (panel C, white arrow indicating a duplication homolog). (D) Representative example of metaphase FISH using a probe from the deletion region (fosmid G248P85468F6). (F) Metaphase FISH in a euploid control reveals the expected two chromosomal copies of this fosmid probe.