Related Experiment Video
Updated: Aug 12, 2026

07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Trisomy 13: a new recurring chromosome abnormality in acute leukemia
H Döhner1, D C Arthur, E D Ball
1Cancer and Leukemia Group B, Boston, MA.
Blood
|October 15, 1990
Summary
Trisomy 13 is a rare chromosome abnormality found in adults with acute leukemia. This finding is associated with a poor prognosis and significantly shorter survival rates.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Acute leukemia is a heterogeneous group of hematologic malignancies.
- Identifying recurring chromosomal abnormalities aids in understanding disease pathogenesis and prognosis.
Purpose of the Study:
- To identify and characterize a novel recurring chromosome abnormality in adult de novo acute leukemia.
- To assess the clinical significance and prognostic impact of trisomy 13 in acute leukemia.
Main Methods:
- Karyotyping of 621 adult de novo acute leukemia cases.
- Morphologic review and immunophenotypic analysis (antigen expression, T-cell receptor gene rearrangement, TdT positivity).
- Survival analysis comparing patients with and without trisomy 13.
Main Results:
- Trisomy 13 was identified as the sole cytogenetic abnormality in 8 of 621 patients.
- Leukemias with trisomy 13 showed morphologic and immunophenotypic heterogeneity, with myeloid and lymphoid antigen expression.
- Patients with trisomy 13 had significantly shorter survival (median 9.5 months) compared to other patients (median 16.2 months).
Conclusions:
- Trisomy 13 is a rare, recurring clonal abnormality in acute leukemia associated with a poor prognosis.
- The findings suggest malignant transformation of immature hematopoietic precursor cells.
More Related Videos
Related Concept Videos
Meiosis I
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Inheritance of Chromatin Structures
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Disorders of Leukocytes
Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...

