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Updated: Jul 16, 2025

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity
Reza Nejati1, Ryan Neumann-Domer1,2, Zemin Liu1,2
1Department of Pathology, Fox Chase Cancer Center, Temple University Health System, Philadelphia, PA 19111, USA.
Abstract:
We describe genomic findings in an AML case with isochromosome 7p, i(7)(p10), in which SNP array analysis uncovered an additional 7.07-Mb 20q deletion not detected by karyotyping. Several AML cases with i(7)(p10) as an isolated cytogenetic finding have been previously reported. Based on consequent loss of 7q, we propose that AML with i(7)(p10) represents a distinct entity belonging in the WHO group -7/7q-, which represents one of the genetic abnormalities defining AML, myelodysplasia-related. Additionally, the focal del(20q) identified here adds support for a specific common region of deletion in 20q in myeloid malignancies, implicating a small number of candidate genes.
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