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Trisomy 6 Is the Hallmark of a Dysplastic Clone in Bone Marrow Aplasia

Clonal hematopoiesis with trisomy 6 as the sole karyotypic change was revealed by cytogenetics in two cases of aplastic anemia. In both patients, dyserythropoiesis was characterized by asynchrony of maturation between nucleus and cytoplasm, binucleated elements, and intercytoplasmic connections. In...

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Published in:Cancer genetics and cytogenetics 1998-08, Vol.105 (1), p.55-59
Main Authors: La Starza, Roberta, Matteucci, Caterina, Crescenzi, Barbara, Criel, Arnold, Selleslag, Dominik, Martelli, Massimo F, Van den Berghe, Herman, Mecucci, Cristina
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description Clonal hematopoiesis with trisomy 6 as the sole karyotypic change was revealed by cytogenetics in two cases of aplastic anemia. In both patients, dyserythropoiesis was characterized by asynchrony of maturation between nucleus and cytoplasm, binucleated elements, and intercytoplasmic connections. In addition to conventional cytogenetics, the size of the trisomic clone was evaluated by fluorescence in situ hybridization on fixed cells at diagnosis and in the course of the disease by using an α-satellite centromeric probe for chromosome 6. Moreover, in situ hybridization on bone marrow smears showed that dysplastic erythrocytes as well as myeloid cells belonged to the trisomic clone. Trisomy 6 identifies a subgroup of hematologic disorders with bone marrow hypo-aplasia and dyserythropoiesis.
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subjects Anemia, Aplastic - genetics
Anemia, Aplastic - pathology
Biological and medical sciences
Bone Marrow Cells - pathology
Chromosomes, Human, Pair 6 - genetics
Clone Cells - pathology
Female
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Medical sciences
Middle Aged
Other diseases. Hematologic involvement in other diseases
Trisomy - genetics
Trisomy - pathology
title Trisomy 6 Is the Hallmark of a Dysplastic Clone in Bone Marrow Aplasia
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