Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees

MeSH terms

• Chromosomes, Human, Pair 16 / genetics*
• Chromosomes, Human, Pair 21 / genetics*
• Core Binding Factor Alpha 2 Subunit / genetics*
• Female
• Genetic Predisposition to Disease
• Genome, Human
• High-Throughput Nucleotide Sequencing
• Humans
• Leukemia, Myeloid, Acute / congenital
• Leukemia, Myeloid, Acute / genetics*
• Leukemia, Myeloid, Acute / pathology*
• Male
• Mutation / genetics*
• Pedigree
• Translocation, Genetic*