PMC3557211_01
PMC3557211_02
Patient phenotype at 5 years-old. Frontal (A) >and side (B) view
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F1
Patient phenotype at 5 years old can be assessed in Figure 1. 
Partial G banded karyotypes of the proband (A) and father (B). Arrows indicate regions of translocation and bars 9 ph variation
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PMC3557211_02_1755-8166-6-2-2.jpg
F2
Patient karyotype was 46, XY, der(7)t(7;9)(q36;p22), 9 ph (Figure 2). 
MLPA ratio chart of proband. Analysis revealed gain for gene DMRT1 in 9p24.3 region (1,63+/-0,04) and loss for gene VIPR2 (0,64+/-0,04) located in 7q36.3
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PMC3557211_02_1755-8166-6-2-3.jpg
F3
One copy loss of VIPR2 gene (7q36.3) and one copy gain of DMRT1 gene (9p24.3) were detected in the patient DNA analysis (Figure 3).