Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia
Background and Aim: Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies. They are rare in blood disorder.
Abolfazl Movafagh +8 more
doaj
A novel t(2;10)(q31;p12) balanced translocation in acute myeloid leukemia
We describe a case of acute myeloid leukemia M5 showing a balanced t(2;10)(q31;p12) translocation. This has never been described before as the sole cytogenetic abnormality in a bone marrow cell clone at onset.
Luciana Impera +7 more
doaj +1 more source
Analysis of non-Hodgkin's lymphoma by conventional cytogenetics and fluorescence in-situ hybridisation. [PDF]
Cytogenetic analysis was performed on 40 non-Hodgkin's lymphoma (NHQ node biopsies. Chromosomes X, 3 and 12 were the most frequently gained; of the much rarer monosomies, loss of chromosome 13 was most common.
Hammond, David William, Hammond, D.W.
core
The aim of the study was to determine molecular genetic and clinical characterization of acute myeloid leukemia (AML) with trisomy 8 as the sole chromosome abnormality, a recurrent but rare chromosomal abnormality in AML.
LiuJun Cao (12536097) +9 more
core +1 more source
In this article, Shuai and colleagues demonstrate that metabolic remodeling drives self‐diploidization in murine haploid ESCs (haESCs). Mitochondrial dysfunction and imbalanced pyruvate metabolism underlie this process. Genome‐wide screening using haESCs identifies key mitochondrial quality‐control related genes, enabling a metabolism‐based medium that
Yi Fu +11 more
wiley +1 more source
Cytogenetic Findings in Mentally Retarded Iranian Patients
We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood ...
Nasiri F. +5 more
doaj +1 more source
A Novel Cryptic t(2;3)(p21;q25) Translocation Fuses the WWTR1 and PRKCE Genes in Uterine Leiomyoma With 3q- as the Sole Visible Chromosome Abnormality. [PDF]
Panagopoulos I +5 more
europepmc +1 more source
Psychotic disorder and focal epilepsy in a left-handed patient with chromosome XYY abnormality
Psychotic disorder and focal epilepsy in a left-handed patient with chromosome XYY abnormality: Objective: To discuss the relationship between XYY chromosome abnormality, psychiatric disorders and epilepsy. Method: Single case report.
Perucca, P +5 more
core
Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core
Chronic lymphocytic leukemia patients with chromosome 6q deletion as the sole cytogenetic abnormality display a high frequency of RPS15 mutations and have a poor prognosis [PDF]
Chronic lymphocytic leukemia patients with chromosome 6q deletion as the sole cytogenetic abnormality display a high frequency of RPS15 mutations and have a poor ...
Hernández-Rivas, José Ángel +29 more
core +1 more source

