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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

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Figure

Figure 1 Karyotype result. G-banding revealed a karyotype 47, XY, +mar in all studied cells
Figure 3 Confirmatory FISH result. Confirmatory FISH of this sSMCusing centromere probe 14/22 (red) and TelVysion 16p (green)specific for 16pter revealed five distinct red signals and three distinctgreen signals confirming the origins of the sSMC
Table 1 Clinical manifestations of the patients with sSMCs including region 14q11.2
Table 2 Clinical manifestations of the patients with partial 16p duplication
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