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

Fig. 3.

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Fig. 3. Genetic testing of the patient. (A) MS-PCR RFLP analysis of the 7q.21.3 region (SGCE) revealed UPD(7)mat in the patient. The arrow indicates the missing paternal section. (B) MS-MLPA analysis of 11p15 showed a normal methylation pattern and the absence of copy number variation. (C) Copy number gain at Xp22.2p22.13 (16,985,921-17,731,098 kb) was detected on chromosomal microarray analysis (the duplicated region is indicated by the blue arrow with light blue outline). The X-axis presents the probe index on chromosome X, and the Y-axis presents the signal log 2 ratio of the probe. MS-PCR RFLP, methylation-specific polymerase chain reaction restriction fragment length polymorphism; UPD(7)mat, maternal uniparental disomy of chromosome 7; MS-MLPA, methylation-specific multiplex ligation probe-dependent analysis; Sub, subject; NC, normal control.
Journal of Genetic Medicine 2020;17:83-8
© 2020 Korean Society of Medical Genetics and Genomics