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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes

Fig. 3

X-inactivation analysis. (Top) The mother (I-2) is a heterozygous for HUMARA allele (302 and 314). The affected son received the 302 allele from the mother. (Bottom) After the methylation-sensitive restriction endonuclease, HpaII digestion, the only one allele 302 (methylated, inactive) was identified in the mother. This result represented completely skewed (100:0) inactivation of the X chromosome containing the MECP2 region duplication

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