case_images: PMC3557211_01
case_images: PMC3557211_02
case_images: Patient phenotype at 5 years-old. Frontal (A) >and side (B) view
case_images: 1755-8166-6-2-1.jpg
case_images: PMC3557211_02_1755-8166-6-2-1.jpg
case_images: F1
case_images: Patient phenotype at 5 years old can be assessed in Figure 1. 
case_images: Partial G banded karyotypes of the proband (A) and father (B). Arrows indicate regions of translocation and bars 9 ph variation
case_images: 1755-8166-6-2-2.jpg
case_images: PMC3557211_02_1755-8166-6-2-2.jpg
case_images: F2
case_images: Patient karyotype was 46, XY, der(7)t(7;9)(q36;p22), 9 ph (Figure 2). 
case_images: 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
case_images: 1755-8166-6-2-3.jpg
case_images: PMC3557211_02_1755-8166-6-2-3.jpg
case_images: F3
case_images: 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).