Results 1 to 10 of about 100,778 (164)
Philadelphia chromosome duplication as a ring-shaped chromosome. [PDF]
Mol Cytogenet, 2016 La obtención de una segunda copia del cromosoma Filadelfia es uno de los principales cambios cromosómicos secundarios relacionados con la evolución clonal de las células con t(9;22) en la leucemia mielógena crónica. Esta ganancia provoca la adquisición de otra copia del gen de fusión BCR/ABL1.
Borjas-Gutierrez C, Gonzalez-Garcia JR.
europepmc +4 more sources
Chromosome Duplication in Saccharomyces cerevisiae. [PDF]
Genetics, 2016 AbstractThe accurate and complete replication of genomic DNA is essential for all life. In eukaryotic cells, the assembly of the multi-enzyme replisomes that perform replication is divided into stages that occur at distinct phases of the cell cycle. Replicative DNA helicases are loaded around origins of DNA replication exclusively during G1 phase.
Bell SP, Labib K.
europepmc +6 more sources
Chromosome Duplication (14q) and The Genotype Phenotype Correlation [PDF]
International Journal of Fertility and Sterility, 2014 The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features.
Ariane Sadr-Nabavi, Morteza Saeidi
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Molecular Cytogenetics, 2023 Background Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype.
Shengfang Qin +9 more
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Molecular Cytogenetics, 2023 Background Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic ...
Liyu Zhang +6 more
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Partial duplication of chromosome 20(pter->q12) [PDF]
Genetics and Molecular Biology, 2000 Partial duplication of chromosome 20 (20pter->20q12) resulting from a maternally inherited translocation t(14;20)(q11;q13) is described in a female child with neuropsychomotor retardation and multiple congenital anomalies.
Valter Augusto Della-Rosa +1 more
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Application value of NIPT for uncommon fetal chromosomal abnormalities
Molecular Cytogenetics, 2020 Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin +4 more
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Inherited partial duplication of chromosome No. 15 [PDF]
Journal of Medical Genetics, 1974 A boy with unusual facial appearance and mental retardation was found to have duplication for the distal half of the long arm of chromosome No. 15 and possibly deficiency for the distal end of the long arm of No. 21. The chromosome abnormality was inherited from his mother, who had a translocation involving chromosomes Nos. 15 and 21.
A, Fujimoto +4 more
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X chromosome duplications affect a region of the chromosome they do not duplicate in Caenorhabditis elegans. [PDF]
Genetics, 1988 Abstract X chromosome duplications have been used previously to vary the dose of specific regions of the X chromosome to study dosage compensation and sex determination in Caenorhabditis elegans. We show here that duplications suppress and X-linked hypomorphic mutation and elevate the level of activity of an X-linked enzyme, although ...
Meneely, Philip M., Nordstrom, K. D.
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Fungal Biology and Biotechnology, 2018 Background Translocated chromosomal duplications occur spontaneously in many organisms; segmental duplications of large chromosomal regions are expected to result in phenotypic changes because of gene dosage effects.
Tadashi Takahashi +3 more
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