Figure 2

FAM86D. A) Homozygous loss of FAM86D in L206. A 200 Mb region containing the FAM86D gene at 3p12.3 is shown (X-axis). The gene lies in a ~100 Mb homozygous deleted region, within a larger area of hemizygous deletion. The individual copy number probes are shown as the log ratio of the intensity and zero is two copies. The horizontal lines are segments with identical copy number as identified by the HMM SNP-FASST algorithm. B) MLPA for 38 controls, 14 Ollier enchondromas (ECs) and 23 Ollier chondrosarcomas (CS). The Y-axis shows ratio profile and 1.0 indicates two copies of a given chromosomal locus. Homozygous copy loss of the FAM86D as shown by SNP array was confirmed in L206 and L910. Most of the controls and tumors show either two copies or hemizygous loss of this gene. Note that only outliers are displayed with ID numbers.