Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis

Figure 2

Microarray testing results. The CNVs of Cases 2, 4, 5, and 8 were detected by SNP array. (a)–(d) showed the SNP results of Cases 2, 4, 5, and 8, respectively. (a) A 3.15-Mb duplication in chromosome 22q11.21 included 43 OMIM genes in Case 2. (b) A 0.17-Mb deletion in chromosome Xq13.3 in Case 4. (c) A 0.34-Mb deletion within chromosome 2p21 in Case 5. (d) A 1.15-Mb deletion of chromosome 21q21.1 in Case 8. The chromosome numbers and cytobands are shown and labeled on the right side. The view on the left side shows the detected segments, regions, and reference annotations in detail. Chromosomal duplication segments are denoted by upward triangle (blue) whereas deletion segments are denoted by downward triangle (red).

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