Figure 1 | Human Genome Variation

Figure 1

From: DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects

Figure 1

Microdeletion and duplication at the proximal part of the DiGeorge syndrome critical region detected in two patients by high-resolution array and quantitative PCR analysis. (a) Result of high-resolution array analysis in two cases. A small deletion, including at least DGCR9, DGCR5 and PRODH, was observed in case 1, whereas almost the same region was duplicated in case 2. The area without any dots is where the array probe does not exist. The light and the dark brown bars show the estimated maximum and minimum deleted area in case 1, respectively. The light and dark purple bars show the estimated maximum and minimum duplicated area in case 2, respectively. (b) Genes located in this area are presented. The arrows indicate the locations of primers used in quantitative PCR analysis shown in Figure 2.

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