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This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/1552-4825/suppmat/index.html .

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AJMGA_32433_sm_SupplementaryFigS1.pdf46KSupplementary Fig. S1. Representative result of FISH using replicated G-banding chromosomes with UV treatment. Each signal is the same as in Fig. 3A. In this figure, a chromosome X with the deletion showed early-replication revealing activation (open arrow), whereas the intact chromosome X showed late-replication revealing inactivation (filled arrowhead). However, the affected allele was inactivated in 11 of 20 cells in Patient 1, suggesting that X-chromosomal inactivation was not obviously skewed.

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