Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1.

The results of multiplex ligation-dependent probe amplification (MLPA) analysis. MLPA analyses were done using two types of SALSA Reference Kit, P064 and P245 (MRC Holland) according to the manufacturer’s instructions. P064 and 245 contains MLPA probes with amplification products, respectively, corresponding to RAI1, TOM1L2 , DRC3 and LLGL1 genes located at the 17p11.2 regions. Green dots indicate normal allele, while red dots are abnormal that is duplicated at 17p11.2. (A) Case 1 patient, (B) case 2 patient, (C) case 3 patient. Each 1, 2: P064, P245 probemix.

Journal of Genetic Medicine 2019;16:49-54
© 2019 Korean Society of Medical Genetics and Genomics