Acquired chromosome rearrangements, including fine interstitial deletions, in a patient with Down syndrome and monoblastic leukemia

A female child with Down syndrome who developed acute monoblastic leukemia is reported. Anemia associated with milk leukopenia was first recognized when the patient was 14 months old. Acute monoblastic leukemia was diagnosed 1 year later; cytogenetic studies were performed on circulating leukemic ce...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1984-12, Vol.74 (6), p.1029-1033
Main Authors: Misawa, S, Testa, J R, Strauss, L C, Leavitt, R D, Civin, C I
Format: Article
Language:English
Subjects:
Child, Preschool
Chromosome Deletion
Chromosomes, Human, 1-3
Chromosomes, Human, 16-18
Chromosomes, Human, 6-12 and X
Down Syndrome - complications
Down Syndrome - genetics
Female
Humans
Karyotyping
Leukemia, Monocytic, Acute - complications
Leukemia, Monocytic, Acute - genetics
Splenomegaly - etiology
Translocation, Genetic
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Summary:A female child with Down syndrome who developed acute monoblastic leukemia is reported. Anemia associated with milk leukopenia was first recognized when the patient was 14 months old. Acute monoblastic leukemia was diagnosed 1 year later; cytogenetic studies were performed on circulating leukemic cells at this time. Analysis of elongated, finely banded chromosomes revealed three structural rearrangements, including two rather subtle interstitial deletions, in addition to trisomy 21 which was representative of the patient's constitutional karyotype. The karyotype of the leukemic cells was 47,XX,+21,t(3;18)(p23;q11.2), del(7)(q31.1q31.3), del(9)(p22p24 or p21p23). The patient received no cytostatic chemotherapy and died 4 months after the diagnosis of acute leukemia was made.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.74.6.1029