Leukemic blasts of a female carrier of an ATRX germline mutation have persistently skewed inactivation of the X chromosome. Germline mutation in leukemia needs to be interpreted with caution because it is not always pathologic.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737413PMC
http://dx.doi.org/10.1182/bloodadvances.2019000013DOI Listing

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