Results 1 to 10 of about 43,589 (247)

Detection of Chromosome 13q14 Deletion, Chromosome 11q22 Deletion and Trisomy 12 in Chronic Lymphocytic Leukemia Patients [PDF]

The Iraqi Journal of Medical Sciences, 2021
Background: Chronic lymphocytic leukemia (CLL) is a malignancy of mature B cells. The genetic factors have been found to play a role in the pathogenesis of the disease.
Hiba H. Hashim, Subeh S. Abdulateef
doaj   +10 more sources

Origin of chromosome 12 trisomy surge in human induced pluripotent stem cells. [PDF]

J Cell Biol
Trisomy 12 is the most common whole-chromosome abnormality in human pluripotent stem cells. Conventionally, this acquired aneuploidy is ascribed to a rare single-cell event followed by selective growth advantage. Instead, we show that trisomy 12 emerges simultaneously in a very high percentage of cells in critical transition passages.
Narozna M, Latham MC, Gorbsky GJ.
europepmc   +5 more sources

Additional trisomies amongst patients with chronic lymphocytic leukemia carrying trisomy 12: the accompanying chromosome makes a difference [PDF]

Haematologica, 2016
Recurrent cytogenetic abnormalities in chronic lym- phocytic leukemia (CLL), namely deletions of chromo- somes 11q, 13q, 17p and trisomy 12 (+12), define sub- groups of patients with different clinical behavior and response to treatment. 1 We and others previously report- ed a minor proportion of CLL cases with co-existing tri- somies of chromosomes 12
Panagiotis Baliakas, Anna Puiggros, Aliki Xochelli, Lesley-Ann Sutton, Florence Nguyen-Khac, Anne Gardiner, Karla Plevova, Eva Minga, Anastasia Hadzidimitriou, Renata Walewska, Helen McCarthy, Margarita Ortega, Rosa Collado, Teresa González, Isabel Granada, Elisa Luño, Jana Kotašková, Theodoros Moysiadis, Zadie Davis, Niki Stavroyianni, Achilles Anagnostopoulos, Jonathan C. Strefford, Sarka Pospisilova, Frederic Davi, Anastasia Athanasiadou, Richard Rosenquist, David Oscier, Blanca Espinet, Kostas Stamatopoulos   +28 more
doaj   +4 more sources

Detection of trisomy 12 by fluorescent in situ hybridization (FISH) in chronic lymphocytic leukemia [PDF]

Genetics and Molecular Biology, 2000
Chronic lymphocytic leukemia (CLL) presents a varying incidence of karyotypic abnormalities whose detection is complicated by difficulties in obtaining mitosis for analysis in this type of mature lymphocyte disorder.
Maria de Lourdes L.F. Chauffaille, Eliana Azevedo Marques, Jose Salvador Rodrigues de Oliveira, Maria Madalena Rodrigues, Maria Stella Figueiredo, Maura Romeo, Mihoko Yamamoto, José Kerbauy   +7 more
doaj   +4 more sources

Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient [PDF]

Cells
Xeroderma Pigmentosum group C (XP-C) is an autosomal recessive disorder caused by mutations in the XPC gene, leading to defective nucleotide excision repair. This defect leads to genomic instability and a profound cancer predisposition.
Almaqdad Alsalloum, Natalia Mingaleva, Ekaterina Gornostal, Zoia Antysheva, Peter Sparber, Mikhail Skoblov, Victoria Pozhitnova, Tatiana Belysheva, Aygun Levashova, Ekaterina Kuznetsova, Yulia Suvorova, Julia Krupinova, Viktor Bogdanov, Alexej Abyzov, Olga Mityaeva, Pavel Volchkov   +15 more
doaj   +2 more sources

Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review

BMC Medical Genomics, 2022
Background To date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12 have been reported. The most frequent phenotypic manifestations are developmental delay, dysmorphic facial features, congenital heart defects, digital alterations, and
A. Martínez-Hernández, D. Martínez-Anaya, C. Durán-McKinster, V. Del Castillo-Ruiz, P. Navarrete-Meneses, E. J. Córdova, B. E. Villegas-Torres, A. Ruiz-Herrera, R. Juárez-Velázquez, E. Yokoyama-Rebollar, D. Cervantes-Barragán, A. Pedraza-Meléndez, L. Orozco, P. Pérez-Vera, C. Salas-Labadía   +14 more
doaj   +1 more source

Trisomy 21 alters DNA methylation in parent-of-origin-dependent and independent manners [PDF]

, 2016
The supernumerary chromosome 21 in Down syndrome differentially affects the methylation statuses at CpG dinucleotide sites and creates genome-wide transcriptional dysregulation of parental alleles, ultimately causing diverse pathologies.
Alves da Silva, Antônio Francisco, Biselli-Périco, Joice Matos, Chuva de Sousa Lopes, Susana Marina, Fernandes, Maria Gomes, Francisco Junior, Ronaldo da Silva, Lopes Rios, Álvaro Fabricio, Machado, Douglas Terra, Machado, Filipe Brum, Medina-Acosta, Enrique, Mozer Rodrigues, Pedro Thyago, Pavarino, Érika Cristina, Santos-Rebouças, Cíntia Barros, Zampieri, Bruna Lancia   +12 more
core   +7 more sources

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event

Molecular Genetics & Genomic Medicine, 2021
Background Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year ...
Verónica Fabiola Morán‐Barroso, Alicia Cervantes, María del Refugio Rivera‐Vega, Adriana del Castillo‐Moreno, Alejandra Moreno‐Chacón, Estefanía Mejía‐Cauich, Laura Eréndira Contreras‐Ortiz, Fernando Fernández‐Ramírez   +7 more
doaj   +1 more source

Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

BMC Medical Genomics, 2021
Purpose The aim of this study was to assess the detection efficiency and clinical application value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in clinical samples from 39,002 prospective cases.
Chaohong Wang, Junxiang Tang, Keting Tong, Daoqi Huang, Huayu Tu, Qingnan Li, Jiansheng Zhu   +6 more
doaj   +1 more source

Clonal chromosome abnormalities in patients with Waldenstrom's and CLL- associated macroglobulinemia: significance of trisomy 12 [PDF]

Blood, 1983
We performed cytogenetic analyses by Q- and G-banding techniques of unstimulated or B-mitogen-stimulated spleen, bone marrow, and peripheral blood cells from six patients with malignant macroglobulinemia [two with Waldenstrom's macroglobulinemia (WM) and four with chronic lymphocytic leukemia associated macroglobulinemia (CLL-M)].
T, Han, N, Sadamori, J, Takeuchi, H, Ozer, E S, Henderson, A, Bhargava, J, Fitzpatrick, A A, Sandberg   +7 more
openaire   +3 more sources