PMC4359765_01
Ensembl and aCGH image of the 4q21.21-q21.23 deletion. Part A is the Ensembl image of the deleted area with the affected genes and the 4q21 microdeletion syndrome minimal critical region highlighted. Part B is our aCGH image where the 4.85 Mb deletion and its exact breakpoints are clearly visible.
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Fig1
After extensive metabolic tests and exclusion of subtelomeric deletions array CGH analysis was performed using the Agilent Human Genome G3 SurePrint 8x60K Microarray, which detected a 4,85 Mb de novo interstitial deletion of 4q21.21-4q21.23 (ch4:81 408 980-86 261 953) (Figure 1).