In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.
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http://dx.doi.org/10.1111/j.1399-0004.1986.tb01918.x | DOI Listing |
Int J Mol Sci
July 2024
Division of Radiation Health, Department of Pharmaceutical Sciences, College of Pharmacy, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
Endothelial cells (ECs) maintain vessel tone and barrier integrity, regulate blood homeostasis, and prevent the extravasation of leukocytes under normal physiological conditions. Because of the limited lifespans and batch-to-batch differences with respect to the genetic make-up of primary ECs, established immortal EC lines are extensively used for studying endothelial biology. To address this issue, the immortal endothelial cell line EA.
View Article and Find Full Text PDFInt J Mol Sci
July 2024
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, MB R3T 2N2, Canada.
Survival of Medulloblastoma (MB) depends on various factors, including the gene expression profiles of MB tumor tissues. In this study, we identified 967 MB survival-related genes (SRGs) using a gene expression dataset and the Cox proportional hazards regression model. Notably, the SRGs were over-represented on chromosomes 6 and 17, known for the abnormalities monosomy 6 and isochromosome 17 in MB.
View Article and Find Full Text PDFFront Neurol
July 2024
Department of Pathophysiology, First Moscow State Medical University (Sechenov University), Moscow, Russia.
Objectives: Diagnosing brain tumors is critical due to their complex nature. This review explores the potential of hybridization for diagnosing brain neoplasms, examining their attributes and applications in neurology and oncology.
Methods: The review surveys literature and cross-references findings with the OMIM database, examining 513 records.
Cell Rep
June 2024
Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, 3800 Spruce Street, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA; Institute for Regenerative Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:
Acta Haematol
May 2024
Division of Hematology/Oncology, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Introduction: Acute promyelocytic leukemia (APL) is genetically characterized by the fusion of promyelocytic leukemia (PML) gene with retinoic acid receptor alpha (RARα) resulting from a t(15;17)(q24;q21) chromosomal translocation. An infrequent but recurrent finding in APL is the formation of an isochromosome of the derivative chromosome 17; ider(17)(q10)t(15;17) or ider(17q). This rearrangement in APL results in an additional copy of the PML-RARα fusion gene as well as loss of 17p/TP53.
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