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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

Fig. 2

Graphs represent results of 17p11.2 imbalance analyzed by Multiplex ligation-dependent probe amplification (MLPA). X-axis represents MLPA probes. Y-axis represents probe dosage quotient. The blue line indicates probe dosage quotient of 1.35 and any probes above this line represent duplication. The red line indicates probe dosage quotient of 0.65 and any probes below this line represent deletion. The probes between 0.85 and 1.15 are considered as normal a A control with normal copy probes. b A patient carries 17p11.2 deletion. c A patient carries 17p11.2 duplication. d The patient carries duplication of both 17p11.2 and 22q11.2

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