De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Figure 2

SNP-array analysis showed a mosaic duplication of ~18.0 Mb in 1q21.1-1q23.3: arr[hg19] 1q21.1q23.3(144,854,574-162,843,606) × 2~3. The upper -axis shows the Log2 R ratio and the lower -axis indicates the B allele frequency.