Figure 2
From: The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes
Copy number variants analysis of the patient: (A) "Normal" high-resolution karyotype. (B) A SNP microarray analysis detected an approximately 5.28-Mb triplication in the short arm of chromosome 1. (C) MLPA result using SALSA kit P147-B1 of MRC Holland, showing a triplication included all probes from ISG15 up to AJAP1(RPH are approximately 2.0). (D) FISH results of the patient. Two red signals with the similar strength were presented in the long arm of chromosome 1 by the control probe TelVysion 1q. However, by the testing probe TelVysion 1p, the green hybridization signal in one 1p was obviously stronger than that in the other 1p, and in interphase nucleus, four green signals could be seen. (E) FISH image of the parents of the patient showed normal appearance, indicating that the 1p partial triplication is de novo (the FISH image of mother didn't shown). (F) Quantitative PCR analysis showed the patient had 3 to 6 times as higher expression levels than control for the four genes B3GALT6, MIB2, PEX10, PANK4 in the blood.