Results 41 to 50 of about 74,783 (169)

Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation

Diagnostics
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an ...
Nicoletta Villa, Serena Redaelli, Stefania Farina, Elena Sala, Francesca Crosti, Sabrina Cozzolino, Maria Verderio, Leda Dalprà, Gaia Roversi, Angela Bentivegna, Giovanni Cazzaniga, Marialuisa Lavitrano, Donatella Conconi   +12 more
doaj   +1 more source

Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal ...
Meng-Che Tsai, Hsueh-Yin Cheng, Mei-Tsz Su, Ming Chen, Pao-Lin Kuo   +4 more
doaj   +1 more source

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p).
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino   +9 more
doaj   +1 more source

Euchromatic variants of 8q21.2 in twins

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: Euchromatic variants (EVs) of 8q21.2 are extremely rare chromosomal abnormalities. So, far there have only been two reports on EVs of 8q21.2. Here, we report an 8q21.2 EV detected in cultured amniotic-fluid cells of twins.
Xiao-Hui Song, Hui-Kuo Hsu, Mei-Tsz Su, Tai-Sheng Chang, Piing Yuh Su, Ming Chen, Pao-Lin Kuo   +6 more
doaj   +1 more source

CYTOLOGICAL AND GENETIC CHARACTERIZATION OF A NEW MUTANT OF VEGETABLE PEPPER CAPSICUM ANNUUM VAR. ANNUUM L.

Вавиловский журнал генетики и селекции, 2015
Two new spontaneous mutations of the vegetable pepper C. annuum var. annuum have been identified in the 5-th insolation zone in a greenhouse. Tentative cytologic and genetic characterization shows that both were dominant and were controlled by two ...
O. Yu. Timin, O. O. Timina, P. Yu. Montvid, A. P. Samovol   +3 more
doaj  

Unconventional vegetables collected in Brazil: chromosome number and description of nuclear DNA content

Crop Breeding and Applied Biotechnology, 2017
The aim of this study was to perform chromosome counts and nuclear DNA quantification of the unconventional vegetables species: bertalha (Basella alba L.), vinagreira verde (Hibiscus sabdariffa L.), azedinha (Rumex acetosa L.), peixinho (Stachys ...
Luis Felipe Lima e Silva, Vânia Helena Techio, Luciane Vilela Resende, Guilherme Tomaz Braz, Kátia Ferreira Marques de Resende, Carolina Queiroz Samartini   +5 more
doaj  

Cytoembryological evaluation, meiotic behavior and pollen viability of Paspalum notatum tetraploidized plants

Crop Breeding and Applied Biotechnology, 2016
This study evaluated the mode of reproduction, the meiotic behavior and the pollen viability of three tetraploid plants (2n=4x=40) originated from somatic chromosome duplication of Paspalum notatum plants. The plant WKS 3 changed the mode of reproduction
Karine Cristina Krycki, Carine Simioni, Miguel Dall’Agnol   +2 more
doaj  

A Relapsed AML Case Featuring MYC and MECOM Rearrangements

Diagnostics
Background/Objectives: Relapsed acute myeloid leukemia (AML) is often characterized by clonal evolution and acquired genomic abnormalities, which can inform prognosis and direct therapeutic decisions. The emergence of high-risk chromosomal rearrangements
Kevin A. Murgas, Pons Materum, Luke Z. Li, Jacob Rocha, Michael Schuster, Tahmeena Ahmed, Carlos A. Tirado   +6 more
doaj   +1 more source

Biomarkers and detection techniques for genotoxic damage in workers exposed to benzene, toluene, and xylene: a narrative review

Actualidades Biológicas
Occupational exposure to BTX compounds (benzene, toluene, and xylene) continues to pose significant health risks, especially in industrial settings where these solvents are widely used in the manufacturing of rubber, paints, and plastics.
Julieth Restrepo-Atehortua, Juan Camilo Areiza-Estrada, David Velásquez-Carvajal, Lina Marcela Barrera-Arenas   +3 more
doaj   +1 more source

Genomic and Cytogenetic Analysis of Synthetic Polyploids between Diploid and Tetraploid Cotton (Gossypium) Species. [PDF]

Plants (Basel), 2023
Khidirov MT, Ernazarova DK, Rafieva FU, Ernazarova ZA, Toshpulatov AK, Umarov RF, Kholova MD, Oripova BB, Kudratova MK, Gapparov BM, Khidirova MM, Komilov DJ, Turaev OS, Udall JA, Yu JZ, Kushanov FN.   +15 more
europepmc   +1 more source