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Figure 2 | BMC Medical Genetics

Figure 2

From: Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Figure 2

Results of molecular and cytogenetic laboratory tests. A) Array CGH profile of chromosome 5 showing an excess of material deriving from 5q35.2-5q35.3 in the proband B) Partial karyotype showing proband’s chromosomes 5; possible excess of material on 5q was indicated by red arrow C) FISH analysis with subtelomeric probes (Vysis) for 5q (red signal) and 5p (green signal) showing the location of the extra material on 5q (red signal was indicated by white arrows) D) qPCR results for 5q35.2-q35.3 segment performed in the proband and both parents: three highly specific primer pairs confirmed the presence of three copies in the proband (indicated by black arrow) and showed two copies in both parents.

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