PMC3425039_01
Elfin faces.
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fig1
The patient had a typical face with bulge forehead (Figure 1), and also she had a speech problem; although she had a good auditory rote memory and could follow the orders, she could not normally say the words and sentences.
Angiography. Left ventricle injection: supraaortic stenosis.
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fig2
Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis; then angiography was done and showed: left ventricle injection: mild supraaortic stenosis (Figure 2), in pulmonary artery injection: mild multiple peripheral pulmonary stenosis (Figure 3), and in abdominal aorta injection: bilateral renal arteries stenosis (Figure 4).
Angiography. Pulmonary artery injection: peripheral pulmonary stenosis.
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fig3
Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis; then angiography was done and showed: left ventricle injection: mild supraaortic stenosis (Figure 2), in pulmonary artery injection: mild multiple peripheral pulmonary stenosis (Figure 3), and in abdominal aorta injection: bilateral renal arteries stenosis (Figure 4).
Angiography. Abdominal aorta injection: renal artery stenosis.
CRIM2012-585726.004.jpg
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fig4
Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis; then angiography was done and showed: left ventricle injection: mild supraaortic stenosis (Figure 2), in pulmonary artery injection: mild multiple peripheral pulmonary stenosis (Figure 3), and in abdominal aorta injection: bilateral renal arteries stenosis (Figure 4).
FISH report: signal for 7q11 is labeled in green and 7q22 region is labeled in red. Fluorescent in situ hybridization was performed using cytocell Williams-Beuren region probe. The Williams-Beuren region probe is optimized to detect copy numbers of the ELN gene region at 7q11.2. The 7q22 region-specific DNA probe at 7q22 is included as control probe, where the signal for 7q11 is labeled in green and 7q22 region is labeled in red. The patient was found to have two chromosomes 7, one of which showed no signals corresponding to the test probes diagnostic Williams syndrome. Conclusion: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams' syndrome.
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fig5
Fluorescent in situ hybridization was performed (Figure 5), and the result was 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams' syndrome.