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Review Article A novel mosaic 22q11.2 micro-duplication syndrome: clinical report and literature review. Cerebro-oculo-facio-urethrogenito-skeletal syndrome: de novo condition

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Figure

Figure 1. Facial appearance of the patient: left: Front, right: Profile.
Table 1. Ophthalmic findings
Figure 4. Chromosomal analysis. left: Partial karyogram of the array finding, upper right: Non mosaic neighboring two tandem duplications within 22q11.21, lower right: mosaic finding extending to nearby subbands.
Table 2. Microarray findings and affected OMIM genes
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