American Society of Hematology, Blood Advances, 5(1), p. 319-329, 2017
DOI: 10.1182/bloodadvances.2016000943
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Key Points Fanconi anemia patients have exacerbated cytogenetic clonal mosaicism as detected by molecular karyotyping of blood DNA with SNP assays. Bone marrow clonal abnormalities can be detected in blood DNA and used as biomarkers of cancer risk and poor prognosis.