PMC6151207_01
Proband 3: (a) phenotype showing low set ears and everted lower lip, (b) T2 weighted magnetic resonance imaging of brain showing asymmetric lateral ventricle (arrow), (c) snapshots of microarray plots (Illumina HumanCytoSNP-12, CA) and coding genes (http://genome.ucsc.edu/) of duplication 12p13.33p13.32, and (d) snapshots of microarray plots (Illumina HumanCytoSNP-12, CA) and coding genes (http://genome.ucsc.edu/) of deletion 18q22.3q23.
CRIG2018-1928918.003.jpg
PMC6151207_01_CRIG2018-1928918.003.jpg
fig3
He had hypertelorism, wide eyebrows, narrow nasal root, everted lower lip, short ears, short neck (Figure 3(a)), and operated scar of bilateral cleft lip with alveolus. MRI brain showed asymmetric lateral ventricle (Figure 3(b)). Snapshots of microarray plots and coding genes in sequential order of dup 12p13.33p13.32 and del 18q22.3q23 are shown in Figures 3(c) and 3(d).