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Figure 2 | BMC Medical Genetics

Figure 2

From: A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

Figure 2

Molecular characterization of the duplication involving MECP2. a. High-resolution oligonucleotide array CGH results for the consultand (BAB3149) and father (BAB3150) showing a partial duplication of MECP2; b. PCR assay and sequencing result for the breakpoint junction of the duplication flanked by primers 3149R1 + FE. The junctional fragment was observed exclusively in those wells corresponding to consultand (BAB3149) and father (BAB3150); c. Smallest region of overlap (SRO) surmised from a cohort of 30 patients with MECP2 duplication syndrome [11] encompassing HCFC1, IRAK1, MECP2 as well as all known MECP2 cis-regulatory regions (shown in green) [24], compared with the partial duplication observed in the family (illustrated by BAB3150), which does not include the entire pre-defined SRO.

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BMC Medical Genetics

ISSN: 1471-2350

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