Figure 2.

3,693 kb deletion of 22q12.2 in patient PRS-NF2. A) G-banding high resolution karyotype reveals interstitial deletion of the light band q12.2 in the long arm of chromosome 22 (arrowhead - intact normal region; arrow - deleted region). B) Fluorescence in situ hybridization (FISH) studies with EWSR1 (22q12.2) dual color break apart probe revealed one entire fusion signal missing indicating heterozygous deletion in 22q12.2. FISH studies with flanking probes: TUPLE1 (22q11.2) and the BCR(22q11.2)/ABL(9q34) probes showed no deletions of TUPLE or BCR. C) Affymetrix Genotyping Consoleā„¢ (GTC) Software display of the 22q12.2 deletion identified using chromosomal microarray (CMA; Affymetrix Genome-wide Human SNP Array 6.0).

Davidson et al. BMC Medical Genetics 2012 13:19   doi:10.1186/1471-2350-13-19
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