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Proc Natl Acad Sci U S A 97: 10236–10241, 2000

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Approximately one-half to two-thirds of cases of acute leukemia in children with Down syndrome are ALL, and about 2% to 3% of childhood ALL cases occur in children with Down syndrome.[30-33] ALL in children with Down syndrome has an age distribution similar to that of ALL in children without Down syndrome, with a median age of 3 to 4 years.[30,31] In contrast, nearly all cases of AML in children with Down syndrome occur before the age of 4 years (median age, 1 year).[34] Patients with ALL and Down syndrome have a lower incidence of both favorable ( ETV6 :: RUNX1 fusion and hyperdiploidy [51–65 chromosomes]) and unfavorable ( BCR :: ABL1 or KMT2A :: AFF1 fusions and hypodiploidy [ A