FIG. 2.

Fine mapping of the chromosome 22 translocation breakpoint. The derivative chromosome 22 was differentially labeled with Cy3-dCTP, derivative chromosome 1 was labeled with Cy5-dCTP and both were hybridized to chromosome 22 specific oligonucleotide array (NimbleGen HG 18 Chr22 design). The hybridization localized the breakpoint at sufficiently high resolution (A) to enable PCR based breakpoint cloning (B). The chromosome 22 breakpoint is between 18,167, 843-18, 167,854 bp, within intron 7 of the GNB1L gene, and encompasses a 10 bp deletion shown in lower case (tcttctctgc).