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A two year old girl with Down's syndrome (constitutional karyotype: 47 + 21), presenting with pancytopenia, developed acute megakaryoblastic leukaemia (AMKL). Her bone marrow contained an abnormal clone with a novel dicentric chromosome derived from chromosomes 5 and 7 (karyotype 46, XX, -5, -7, +dic (5;7) (p 13; p 11.2), +21. This case provides further evidence for a connection between chromosome 21 and this unusual form of childhood leukaemia, and raises questions about the loss of short arm material from chromosomes 5 and 7 compared with the more usual monosomy or long arm loss.

Original publication




Journal article


J Clin Pathol

Publication Date





378 - 380


Bone Marrow, Child, Preschool, Chromosomes, Human, Pair 21, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 7, Down Syndrome, Female, Humans, Karyotyping, Leukemia, Megakaryoblastic, Acute, Translocation, Genetic