Lab Med Online.  2020 Apr;10(2):165-168. 10.3343/lmo.2020.10.2.165.

Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis

• Jang MA
• Park S
• Park JE
• Kim YE
• Ki CS

• KMID: 2512248
• DOI: http://doi.org/10.3343/lmo.2020.10.2.165

Figure

• 

  Fig. 1 Molecular investigations of a patient with intellectual disabilities, intractable epilepsy, and autistic features. (A) Low-depth whole-genome sequencing revealed a duplication of 525 kb at Xq28. The duplicated region (chrX:153,060,001-153,585,001, shown in red) contains MECP2 and several other genes. (B-C) multiplex ligation-dependent probe amplification analysis of MECP2 in the patient (B) and mother (C). The red squares represent duplications of MECP2 exons in each sample.

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