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Results for “chromosomal analysis”

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At least 19 recordsLinked to original sources
PubMed1977

Chromosome analysis and cell cytology in effusions. A comparative study.

Chromosome analysis and conventional cytology have been done on serous effusions from 35 patients, 21 of whom had a final clinical diagnosis of malignant disease and 14 of non-malignant disease. Sixteen of the malignant cases were previously untreated. Cytology disclosed nine cases as malignant, three as suspect malignant and nine as normal. The comparable figures for chromosome analysis were 14 malignant, two suspect malignant, and five normal. Neither of the methods gave false positive results in the small series of non-malignant disease. In the present study chromosome analysis has thus provided greater diagnostic accuracy than cytology on serous effusions of malignant disorders.

Aged↗
PubMed1977

Should the indications for prenatal chromosome analysis be changed?

Amniocentesis for chromosome analysis was performed in 1086 pergnant women, 739 of whom had an increased risk of giving birth to a child with chromosome abnormalities. Such abnormalities were found in almost identical proportions among the fetuses with an increased risk (1.2%) and among those with no increased risk (1.4%). Findings in several other studies seem to confirm that there is no significant difference between the risk groups in the proportion of abnormalities found. This suggests that our current risk groups may not be the right ones, but a much larger study is needed to confirm this.

Amniocentesis↗
PubMedDate not supplied

Indications for chromosome analysis illustrated by a case of ring 22.

A child with multiple anomalies and a suggested diagnosis of Hurler's syndrome was studied. Routine chromosome analysis revealed a ring 22. This case illustrates the importance of chromosome analysis in the evaluation of individuals with developmental problems.

Abnormalities, Multiple↗
PubMed1977

Chromosomal analysis of fertile female heterosexual twins in cattle.

Metaphase chromosomes derived from leukocyte cultures of peripheral blood were examined in 15 fertile, female, heterosexual bovine twins. Of the 15 animals, 14 contained only XX cells in cultured leukocytes while the remaining female was chimeric containing 26% XY cells. The fertile, female, bovine, heterosexual twin demonstrating XX/XY sex chromosome chimerism in cultured leukocytes supplies evidence that chorionic fusion and vascular anastomosis may occur between male and female cattle twins without production of a freemartin. Although one fertile, female, bovine, heterosexual twin expressed XX/XY chimerism, we believe the leukocyte culture technique is a valuable tool for early diagnosis of the freemartin condition. In comparison with other diagnostic aids including clinical observations, erythrocyte typing, and homograft tolerance, chromosome analysis of leukocytes is equally efficient, less expensive, and more practical for routine early diagnosis of the bovine freemartin. Blood can be sampled soon after birth for karyotyping. From leukocyte culture technique, in 3 days after initiation of the cultures the reproductive capacity of the female twin can be decided.

Animals↗
PubMed1979

Efficient interaction for automated chromosome analysis using asynchronous parallel processes.

It is likely that any practical automated chromosome analysis system will be interactive. To prevent long pauses in the stream of operator interactions, it is necessary, if using standard computer hardware, to configure for asynchronous and parallel operation. A system is presented which uses several computer processors, which can support one or more operators, and which divides processing into interactive and noninteractive sections, smoothes the rate of presentation of interactions, and keeps both the operator and the computer fully employed.

Chromosomes, Human↗
PubMed1977

Chromosome analysis in the Kruger National Park: the chromosomes of the bushbuck (Tragelaphus scriptus).

Chromosome studies in the male and female bushbuck (Tragelaphus scriptus) are discribed. The male has a diploid chromosome number of one fewer than the female, and the Y-to-autosome fusion. The configuration of a quadrivalent observed in meiotic preparations from the male confirmed the presence of a fusion between a Y chromosome and an autosome. All other members of the tragelaphine tribe so far studied chromosomally show the presence of a Y-to-autosome fusion. It is postulated that the fusion observed in all present-day species of the tribe studied to date arose as a single event in a common ancestor.

Animals↗
PubMed1977

Idiopathic acquired refractory sideroblastic anemia: Banded chromosome analysis in six patients.

Chromosome analyses with banding were performed on six patients with idiopathic acquired refractory sideroblastic anemia (IARSA). One patient was found to have an extra chromosome No. 8, but had a normal level of red cell glutathione reductase. Bone marrow chromosomes from the other patients showed a normal karyotype. 28 patients with IARSA, including our 6 patients, have had chromosomal analyses. Two consistent chromosomal abnormalities have been described: a + 8 in three patients and a 20q- in three others. Despite the presence of chromosomal abnormalities in abouut one half of the patients, no patients has yet developed acute myelogenous leukemia. Several have died of hemochromatosis. The presence of a chromosomal abnormality appears to have no influence on the early course of IARSA.

Adult↗
PubMed1978

Chromosome analysis of spleen and/or lymph nodes of patients with chronic myeloid leukemia (CML).

Origin and spread of the chromosomally abnormal cells that appear in chronic myeloid leukemia (CML) after transformation are unknown. Spleen and lymph node may be involved. In 16 patients with CML splenectomy and/or adenectomy were performed before or during the blastic crisis of the disease, followed by a chromosomal analysis of the cells from the removed organ. At the same time, the chromosomes of the blood cell and of the bone marrow were also analyzed. Analyses were done with R banding. The results show that an extramedullary clonal development with duplication of the Ph1 chromosome and other features occurred. From a cytogenetic standpoint, acute blastic phase of CML is frequently characterized by an increased number of chromosomes owing to preferential gain of additional chromosomes. This, then, would clearly point to extamedullary acute transition in CML.

Bone Marrow↗
PubMed2025

MetaChrome: An Open-Source, User-Friendly Tool for Automated Metaphase Chromosome Analysis.

DNA Fluorescence In Situ Hybridization (FISH) is an essential technique to study chromosome biology and genetics, enabling precise visualization of specific genomic loci to study structural abnormalities, gene mapping, and chromosomal rearrangements. High-Throughput Imaging (HTI) can automate the analysis of DNA-FISH chromosome images, but the accurate and automated segmentation of mitotic chromosomes and simultaneous colocalization of FISH signals remains a challenge. While several commercial automated karyotyping tools partially solve these issues, open-source software that effectively combines robust chromosome segmentation with comprehensive colocalization analysis capabilities remains necessary. To address this unmet need, we developed MetaChrome, an open-source software platform built around a graphical user interface and explicitly designed for automated metaphase chromosome analysis. MetaChrome leverages fine-tuned deep learning models to automate metaphase chromosome segmentation, together with colocalization analysis of chromosome-specific FISH probes and immunofluorescent-labeled proteins. Importantly, MetaChrome achieves enhanced segmentation accuracy compared to traditional image processing methods by adopting a Cellpose segmentation model fine-tuned with manually annotated metaphase chromosome datasets. The fine-tuned model ensures precise assignment of DNA-FISH spots to individual chromosomes in an automated manner. This facilitates rapid identification of chromosomal abnormalities, reduces human error, and advances high-throughput chromosome analysis workflows, addressing a key bottleneck in chromosome biology research.

Chromosome segmentation↗
PubMed1977

Chromosomal analysis of DDT-resistance in a long-term selected population of Drosophila melanogaster.

The genetic basis of DDT-resistance was studied in a population of Drosophila melanogaster. This population was unique in that it had been continually selected for DDT-resistance since 1952 and had achieved a very high level of resistance. The genetic basis of resistance was studied by means of a chromosomal analysis. Fifteen combinations of resistant and control chromosomes were tested using a time-based DDT test. The analysis of the data showed that resistance was multifactorial with each of the three major chromosomes involved. Dominant and recessive second and third chromosome effects were found to be much more important than those of the first chromosome, which had no detectable recessive effects. Second and third chromosome resistance genes showed incomplete dominance. The average dominance of the second chromosome was much less than that of the third chromosome. These large-scale differences between chromosomes' effects and average dominance may indicate that a small number of resistance genes are involved. Two significant interactions between chromosomes were found. Scaling difficulties make the interactions difficult to interpret without further data. It seems possible that positive interactions between resistance have been developed by the long-term directional selection in this population.

Animals↗
PubMed1978

Chromosome analysis of bone marrow samples from country patients.

Co-operation by outside centres has made it possible to offer bone marrow chromosome analysis to patients living up to 1800 kilometres from the central cytogenetics laboratory. Diagnostic karyotypes have been obtained in 9 of 10 bone marrow specimens which were partially processed before being transported to the city laboratory for final analysis.

Australia↗
PubMed1979

Chromosome analysis in meningeal carcinomatosis.

A 50-year-old man with clinical signs of meningeal carcinomatosis is described in whom cerebrospinal fluid cells suspected of malignancy were found. A chromosome analysis confirmed malignancy and also indicated the origin of the primary tumor.

Adenocarcinoma↗
PubMed1979

Description of chromosome banding patterns by band transition sequences: a new basis for automated chromosome analysis.

For visual and automated analysis of banded human chromosomes, the band pattern features of chromosome profiles considered essential for the cytogeneticist were evaluated. These features were found to be related to each peak (dark band) and its adjacent valley (light band) in the direction p--q. A method for extracting and describing these features was developed and implemented on a computer. The method determines three normalized parameters for each peak and adjacent valley: (1) density of peak; (2) density difference (transition) between peak and valley; and (3) position of peak. Each profile is described by a simple sequence of band transitions (BT-sequence). The BT-sequence was visualized as a profile (BT-profile) using only the information retained in the BT-sequence. Visual classification of BT-profiles shows error rates comparable to visual classification of ordinary density profiles (Lundsteen & Granum 1979). It is therefore concluded that the BT-profiles do retain the important band pattern features of the profiles, and it is supposed that the simple and condensed BT-sequences constitute an appropriate basis for automated karyotyping.

Chromosome Banding↗
PubMed1978

Outcome of pregnancy after amniocentesis for chromosome analysis.

A consecutive series of 1177 pregnant women examined by amniocentesis for chromosomal abnormalities delivered 1039 live-born babies weighing over 2500 g and 79 live-born babies weighing under 2500 g. Twenty-six abortions were induced (2.2%)--13 (1.1%) because of chromosomal abnormalities--and 28 women (2.4%) aborted spontaneously; in these cases chromosomes were normal. Analysis of all spontaneous abortions in the series suggested that 0.3-0.7% might have resulted from amniocentesis.

Abortion, Induced↗