The study of banded chromosomes of nine sporadic unilateral retinoblastomas revealed near diploid karyotypes with multiple numerical and (or) structural abnormalities in all tumors. An identical marker i(6p) was noted in cells of the modal class of six retinoblastomas. Extra copies of the short arm of chromosome 6 were observed in seven tumors: +i(6p) in 6 and +6q-in one. Less regular but repeated findings were a loss of one sex chromosome, and markers 1p+ and 17q+. The structure of these markers was not identical in different tumors. Abnormalities of chromosome 13 were not observed in tumor cells, nor in blood lymphocytes stimulated by PHA.
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http://dx.doi.org/10.1007/BF00296442 | DOI Listing |
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Children's Hematology and Oncology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Objectives: To investigate the clinical characteristics and prognosis of acute erythroleukemia (AEL) in children.
Methods: A retrospective analysis was conducted on the clinical data, treatment, and prognosis of 8 children with AEL treated at the First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023.
Results: Among the 7 patients with complete bone marrow morphological analysis, 4 exhibited trilineage dysplasia, with a 100% incidence of erythroid dysplasia (7/7), a 71% incidence of myeloid dysplasia (5/7), and a 57% incidence of megakaryocytic dysplasia (4/7).
J Med Genet
January 2025
Department of Pediatrics, NHO Beppu Medical Center, Beppu, Oita, Japan
Introduction: Genotype-phenotype correlations in -related neurodevelopmental disorders (-NDDs) remain unclear. This systematic review aimed to clarify these correlations.
Methods: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed NDDs (5q31.
Neurol Neuroimmunol Neuroinflamm
March 2025
MeLis Institute, SynatAc Team, Inserm U1314/ UMR CNRS5284, France.
Background And Objectives: Breast cancers (BCs) of patients with paraneoplastic neurologic syndromes and anti-Yo antibodies (Yo-PNS) overexpress human epidermal growth factor receptor 2 (HER2) and display genetic alterations and overexpression of the Yo-onconeural antigens. They are infiltrated by an unusual proportion of B cells. We investigated whether these features were also observed in patients with PNS and anti-Ri antibodies (Ri-PNS).
View Article and Find Full Text PDFMicrosc Res Tech
January 2025
Molecular Biology and Genetics Department, Faculty of Engineering and Natural Sciences, Uşak University, Uşak, Turkey.
Sulfoxaflor (SFX) is an insecticide that is commonly used for the control of sap-feeding insects. Since SFX is extensively applied globally, it has been implicated in the substantial induction of environmental toxicity. Therefore, in this study, Allium cepa roots have been employed to elucidate the potential cytogenotoxic effects of SFX in non-target cells by examination of mitotic index (MI), chromosomal aberrations (CAs), and DNA damage.
View Article and Find Full Text PDFSci Rep
January 2025
Molecular Modeling and Simulation Team, Institute for Quantum Life Science, National Institutes for Quantum Science and Technology, 4-9-1, Anagawa, Inage-Ku, Chiba City, Chiba, 263-8555, Japan.
Sequence-dependent mechanical properties of DNA could play essential roles in nuclear processes by affecting histone-DNA interactions. Previously, we found that the DNA entry site of the first nucleosomes from the transcription start site (+ 1 nucleosome) in budding yeast enriches AA/TT steps, but not the exit site, and the biased presence of AA/TT in the entry site was associated with the transcription levels of yeast genes. Because AA/TT is a rigid dinucleotide step, we considered that AA/TT causes DNA unwrapping.
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