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. 2019 Sep;21(5):924–931. doi: 10.1016/j.jmoldx.2019.06.001

Figure 2.

Figure 2

Identification of CYP21A1P-TNXA/TNXB chimeric type by real-time quantitative PCR (qPCR) and droplet digital PCR (ddPCR). A: The ratio of TNXB exons 35 and 40 to HBB determined by qPCR. B: The copy numbers of TNXB exons 35 and 40 determined by ddPCR. CAH-X, connective tissue dysplasia consistent with hypermobility-type Ehlers-Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes; CAH-X CH-1, CYP21A1P-TNXA/TNXB chimera with TNXB exons 35-44 replaced by TNXA; CAH-X CH-2, CYP21A1P-TNXA/TNXB chimera with TNXB exons 40-44 replaced by TNXA.