Search results for "Cytogenetic"

The Evolution of Human Chromosome 7 Syntenies in Eutheria, with Special Attention to Primates

2004

Genetic and cytogenetic comparison in between man and non-human primates has largely contributed to the knowledge of the evolution of the Order Primates, and in particular of man. Recently, the "Chromosome painting" approach indicated a strong conservation of syntenies in Eutheria. At present, a more precise identification of breakpoints and evolutionary related rearrangements can be obtained by BAC and locus specific in situ hybridi- sation. In spite to this situation the evolutionary history of different human autosomes remains a dilemma; at the same time, high resolution banded chromosome analysis confirms to be a valuable tool for the preliminary detection of fine rearrangements. This r…

Chromosome painting of the pygmy tree shrew shows that no derived cytogenetic traits link primates and scandentia.

2012

We hybridized human chromosome paints on metaphases of the pygmy tree shrew (<i>Tupaia minor</i>, Scandentia). The lack of the ancestral mammalian 4/8 association in both Primates and Scandentia was long considered a cytogenetic landmark that phylogenetically linked these mammalian orders. However, our results show that the association 4/8 is present in <i>Tupaia </i>along with not previously reported associations for 1/18 and 7/10. Altogether there are 11 syntenic associations of human chromosome segments in the pygmy tree shrew karyotype: 1/18, 2/21, 3/21, 4/8, 7/10, 7/16, 11/20, 12/22 (twice), 14/15 and 16/19. Our data remove any cytogenetic evidence that Scandent…

Ultrastructure of preimplantation genetic diagnosis-derived human blastocysts grown in a coculture system after vitrification

2006

Objective To evaluate ultrastructural features of preimplantation genetic diagnosis (PGD) blastocysts before and after vitrification. Design Descriptive study of both vitrified and fresh hatching blastocysts. Setting PGD program at the Instituto Universitario, Instituto Valenciano de Infertilidad. Patient(s) Patients undergoing PGD donated their abnormal embryos for research (n = 26). Intervention(s) Biopsied embryos were cultured in the presence of human endometrial cells until day 6. Sixteen blastocysts were vitrified. A total of 11 high-scored hatching blastocysts, 6 warmed and 5 fresh, were fixed for ultrastructure. Main Outcome Measure(s) The cytoskeleton structure, type of intercellul…

Data for: Therapy-related acute myeloid leukemia developing 14 years after allogeneic stem cell transplantation, from a persistent R882H-DNMT3A mutat…

2018

Supplementary (DOCX 2.34MB): Materials and methods. Fig. S1. TP53 mutation found in the lung carcinoma cells taken from the patient in 2012. Fig. S2. Karyotype illustrating the metaphases of the 2015 therapy-related myelodysplastic syndrome cells. Fig. S3. Paint of chromosome 15 (green) by fluorescent in situ hybridization. Fig. S4. Analysis of the chimerism (Mentype® Chimera® software, Biotype) at 2015 therapy-related acute myeloid leukemia diagnosis. Fig. S5. IDH1, DNMT3A and NPM1 mutations found at the time of the acute myeloid leukemia diagnosis in 2001. Fig. S6. DNMT3A and TP53 mutations found at the time of the therapy-related acute myeloid leukemia diagnosis in 2015. Fig. S7. Standar…

Impact of polyploidy on fertility variation of Mediterranean Arundo L. (Poaceae)

2015

International audience; Failure of seed production in the genus Arundo L. (Poaceae) is often attributed to polyploidy. This study tested the impact of two ploidy levels (2n = 12 and 18x) on the fertility of four Mediterranean Arundo. Viable pollen was screened from its production to its germination, and seed occurrence was monitored in admixture or isolated conditions. In addition, insights on restructuration of polyploid genornes were analysed using molecular cytogenetics. Our results show that high ploidy levels do not automatically induce failure of sexual reproduction. The two ploidy levels are able to produce viable pollen and seed set depending on species and cultural conditions. The …

Testing the uncertain phylogenetic position of Daubentonia madagascariensis (Strepsirhines) using chromosomes

2011

Microarray mRNA expression analysis of Fanconi anemia fibroblasts.

2007

Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different <i>FANC</i> genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (<i>CTSB</i>), glutaredoxin (<i>GLRX</i>), and polo-like kinase 2 (<i>PLK2</i>), that were misregulated in untreated primary fibroblasts from three unrelated FA-D2 patients, compared to six controls. Quantitative real-time RT PCR was used to validate these results and to study possible molecular links between FA-D2 and other FA subtypes.…

Complete karyotype characterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluores…

2001

This study combines conventional cytogenetics, fluorescence in situ hybridization (FISH), multiplex-FISH and comparative genomic hybridization (CGH). In applying this multimodal approach on the human leukemia cell line K562, the chromosome composition was refined in detail and compared with data from the literature. A hypotriploid karyotype with a modal chromosome number of 67, and 21 unique marker chromosomes were identified. The classification of six markers was identical to published data and the composition of five further markers from the literature could be fully clarified for the first time. The composition of another five markers, which have been interpreted in divergent ways in dif…

Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short seq…

1996

We report a de novo supernumerary isochromosome 18p in a child with tetrasomy 18p, analyzed by a straightforward combination of cytogenetic and molecular cytogenetic methods. The diagnostic procedure consisted of standard banding techniques and fluorescence in situ hybridization (FISH) with centromere and library DNA probes for chromosome 18, and 18p-specific FISH probes prepared by chromosome microdissection and in vitro amplification. The maternal origin as well as the most probable cell stages of formation of the supernumerary isochromosome were determined by typing of short sequence repeats (SSRs). The pattern of allelic distribution suggests a nondisjunction during meiosis followed by …

Loss of 1p in recurrent meningiomas

2001

Deletion of 1p is associated with histological progression to meningiomas. Detection of this alteration may be a predicting factor for recurrences in this tumor. We present 8 meningiomas from four patients: the original tumor and the first recurrence in one patient, and the first and second recurrences in the other three were studied. We compared results of monosomy 22 and deletion of chromosome 1p with cytogenetic methods and fluorescence in situ hybridization (FISH) analysis obtained from slides of direct preparations, of cultured cells and slides of touch preparations. The cytogenetic study showed normal chromosome 22 and deletion on 1p32 in both samples of one patient; only monosomy 22 …