Fig. 3From: A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomesX-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 duplicationBack to article page