Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

Journal Article · Mon Nov 06 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320590212· OSTI ID:443806

Rogan, P K; Close, P; Gannutz, L ^[1]

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1. Pennsylvania State Univ., Hershey, PA (United States); and others

Acute leukemia in Down syndrome (DS) is often associated with additional changes in the number of structure of chromosome 21. We present two DS patients whose leukemic karyotypes were associated with changes in chromosome 21 ploidy. Patient 1 developed acute lymphocytic leukemia (type L1); disomy for chromosome 21 was evident in all blast cells examined. Loss of the paternal chromosome in the leukemic clone produced maternal uniparental disomy with isodisomy over a 25-cM interval. The second patient had acute monoblastic leukemia (type M5) with tetrasomy 21 in all leukemic cells. DNA polymorphism analysis showed duplicate paternal chromosomes in the constitutional genotype. The maternal chromosome was subsequently duplicated in the leukemic clone. The distinct inheritance patterns of chromosome 21 in the blast cells of these patients would appear to indicate that leukemogenesis occurred by different genetic mechanisms in each individual. 57 refs., 2 figs., 3 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 443806
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
DOWNS SYNDROME
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
GENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
HUMAN CHROMOSOMES
KARYOTYPE
LEUKEMIA
LEUKEMOGENESIS
PATIENTS
PHENOTYPE
PLOIDY
POLYMERASE CHAIN REACTION