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. Author manuscript; available in PMC: 2019 Jul 18.
Published in final edited form as: Bone. 2019 Mar 21;123:145–152. doi: 10.1016/j.bone.2019.03.023

Fig. 1.

Fig. 1.

CGH/SNP-array in two patients presenting upd(20)pat (patient 1) or upd(20q)pat (patient 2). A: copy number, the X-axis represents the normalized log2 ratio Cy5(patient)/Cy3(healthy control) fluorescence intensity thresholds – 1 (loss) and 1 (gain), while the Y-axis represents the chromosome 20; B: SNP array; each SNP probe (represented by a filled circle) at a given locus can exist either in homozygous state (a single allele at 0 or 2) or in heterozygous state (at 1). Homozygosity is demonstrated by probes present at either 0 or 2 and the absence of probes at 1.