Figure 2

Karyotype, FISH, and the breakpoint on chromosome 1. (A) Partial karyotype shows apparently reciprocal balanced translocation of 1p34.1 and 20q13.13. (B) Fluorescence in situ hybridization using RP5-1029K14 labeled in red with spectrum orange dUTP, shows hybridization signals on both derivative chromosomes indicating that this probe encompasses the breakpoint. The 1p subtelomeric probe labeled with spectrum green dUTP indicates chromosome 1. (C) Schematic presentation of the clones and genes in the 1p34.1 region, modified from the NCBI Map Viewer http://www.ncbi.nlm.nih.gov/mapview. Three ~10 kb probes are shown in green numbered from left to right, BAC/PAC contigs covering the 1p34.1 breakpoint are shown in purple. The orange dotted lines indicate the critical region.