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Results for “Chromosomal aberrations”

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At least 19 recordsLinked to original sources
PubMed1976

[Antibody deficiency syndrome and chromosome aberrations].

Chromosome analyses were made on culture lymphozytes from peripheral blood in 37 patients with humoral and local antibody deficiency syndrome. In one child with humoral IgA-deficiency a ploidymutation of sex chromosomes - a Klinefelter-Syndrome - and a structural variante of chromosome 16 were detected - karyotype 47, XXY, 16q+. No aberrations of chromosomes 18 and 21 were found out in these phenotypic completely normal children. Patients with secret-IgA-deficiency in mucosae had normal karyotypes. Theoretical aspects of possible connection of antibody deficiency syndrome and chromosomal anomalies are discussed.

Bacterial Infections↗
PubMed1978

[Single-strand DNA breaks and chromosome aberrations in the hepatocytes of mice of different ages].

The same damages were found to occur in hepatocyte DNA from old mice of different strains by means of sedimentation in alkaline sucrose concentration gradient. At the same time, the number of hepatocytes with aberrant chromosomes is strongly different in these strains. From these data an assumption is made that some other damages being accumulated with aging are responsible for chromosome aberrations except for single-strand DNA breaks. The number of single-strand breaks registered in hepatocyte DNA of the old animals under gamma-irradiation is two-three times more than that of the young animals, though the rates of repair of the induced single-strand breaks in DNA are the same for mice of different age and strains.

Aging↗
PubMed1975

Three cases of minor chromosomal aberrations discovered by prenatal chromosome determination.

A case of pronounced secondary constriction of a chromosome belonging to pair N0. 9, a case of deletion of the short arms of one of the chromosomes in pair No. 13, and a case of partial trisomy of the distal portion of a chromosome in pair No. 14 were discovered by prenatal chromosome determination. Analysis of the parents' karyotypes enabled the clinical importance of the three different chromosomal aberrations to be elucidated.

Abortion, Induced↗
PubMed1992

Chromosome aberrations induced in human lymphocytes by U-235 fission neutrons. Part II: Evaluation of the effect of the induced Na-24 activity on the chromosomal aberration yield.

Blood samples were spiked with Na-24 to study the separate effect of this nuclide on the incidence of chromosomal aberrations in neutron irradiated blood samples. A delay of 96 h was allowed before cultivation, so the results of chromosomal aberration analysis could be compared with the results obtained by direct irradiation of blood samples with U-235 fission neutrons [7]. The absorbed dose was calculated using a simple conservative model. From the results obtained we can conclude that Na-24 alone was not the reason for the difference in the incidence of chromosomal aberrations between blood samples cultivated immediately after "in vitro" irradiation by U-235 fission neutrons and samples which were cultivated after 96 h storage.

Absorption↗
PubMed1976

[Individual variations in the frequency of chromosome aberrations following exposure to chemical mutagens. II. Interindividual variation in the frequency of chromosome aberrations in the presence of different mutagen concentrations].

The object of this investigation was the distribution of human periferal blood cultured obtained from different donors with respect to their sensitivity to different concentrations of thiophosphamide (10, 20 and 30 mcg/ml for 1 hour). Two test characteristics were studied, "the proportion of aberrant metaphases" and "the number of chromosome breaks per 100 cells". It is shown that the distribution of individuals does not depend on the mutagen concentration, being normal in all the series of experiments. The same results were obtained when two different statistical methods were used, viz. the method of four moments and the chi-square test. Since the former method is less labour-consuming, the authors recommend it for fitting the normal distribution in cytogenetic investigations. The variances of the test-characteristics studies ("percent aberrant metaphases" and "total number of breaks per 100 cells") increased with the increase of the mean values. Therefore, before the analysis of variance and the regression analysis the cytogenetic data should be preliminary transformed for the purpose of stabilization of variances.

Chromosome Aberrations↗
PubMed1992

Chromosomal aberrations and schizophrenia. Autosomes.

Chromosomal aberrations associated with schizophrenic disorders may suggest regions in which to focus a search for genes predisposing to schizophrenia by a linkage strategy. As for other genetic illnesses, chromosomal abnormalities may also provide useful tools for subsequent physical mapping, fine localisation, and isolation of important susceptibility genes. Identification of several chromosomal aberrations may be especially important, given the unknown pathophysiology, the paucity of known brain genes, and the probable genetic heterogeneity of schizophrenia and manic-depression. However, because psychiatric disorders are common and inherited in a complex manner, researchers must use caution when drawing inferences about associations with chromosomal aberrations. Reported abnormalities involving autosomes (chromosomes 1-22) associated with psychotic disorders are reviewed. Their relevance to linkage studies localising genes for schizophrenia was estimated by standardised criteria for specificity, diagnosis, family history, and overall weight of evidence. Four 'possibly relevant' chromosomal regions were identified: 5q, 11q, 18q, and 19p. This paper outlines strategies for future studies to detect new chromosomal aberrations associated with major psychotic disorders that may be relevant to isolating the genes for schizophrenia.

Chromosome Aberrations↗
PubMed1977

Microdosimetry and chromosome aberrations: effects of 230 keV neutrons on Vicia faba chromosomes.

Physical energy deposition events have been related to sub-nuclear cytological events (chromosomal changes) in metaphases sequentially accumulated from the latter part of the cell cycle of Vicia faba. 230 keV neutrons produce about 0.4 recoil protons per late interphase nucleus per rad with the majority of protons traveling 1 to 2 microns from their origin, depositing energy at around 90 keV per micron. The frequency of induced abberrations is basically linear with dose, though varying through consecutive cell sampling periods because of differential induced mitotic delay. Distributions of chromosomal aberrations and total cytological events are overdispersed in relation to the Poisson distribution indicating that some proton recoils produce multiple events. When gaps and aberrations within chromosomes and multiple aberrations between chromosomes, are considered as discrete events, distributions follow Poisson expectations. About 40% of proton recoils result in observable cytological change. The highly energetic proton recoils (approximately 90 keV per micron) which can induce multiple events are the ones most likely to produce effects which result in cell death. The sphere of influence of the proton recoils is probably adequately estimated from their range (approximately 1 to 2 micron) since it seems compatible with the spatial proximity of the initial components of the resultant chromosome aberrations.

Chromosome Aberrations↗
PubMed1977

[Modeling modification of chemical mutagenesis in human cells. 1. Elimination of chromosomal aberrations].

Elimination of chromosome aberrations was studied in populations of dividing cells. For this purpose, on the basis of the corresponding theory of Carrano-Heddle assuming the Poisson distribution, a theory is advanced by the authors based on geometrical distribution, describing the distribution of lesions caused by the action of tioTEF. Parameters of elimination are obtained observed in case of addition of a protector, aminopropy-laminoethylthiophosphoric acid (APAETF) in a lymphocyte culture of human peripheral blood. It is shown that the addition of the protector diminishes the probability of the transmission of chromosome aberrations to daughter cells.

Cells, Cultured↗
PubMed1976

Radiation-induced chromosomal aberrations in human lymphocytes. I. Dependence on the dose of gamma-rays and an anomaly at low doses.

Cultures of human lymphocytes obtained from blood of healthy adult donors were irradiated with different doses of 60Co gamma-rays and the irradiated cells were analysed in metaphase 50 h after irradiation. The effect (total yield of aberrations of chromosome type, or total yield of exchange type aberrations) produced by the lowest dose (5 rad) appears to be statistically significant in a sample of 1500 cells. In the usual dose range (25-400 rad), both parabolic and linear-quadratic equations give a satisfactory fit of experimental data (dicetrics, fragments, or all aberrations of chromosome type). Low doses of gamma-rays, however, produced more aberrations than expected, if one extrapolates dose-effect curves from higher doses. Both relations should be considered, therefore, merely as empirical equations. Dicentrics show at low doses (10-30 rad) a plateau which appears to be statistically significant. Some indications are obtained that the total number of chromosome-type aberrations is a more reliable criterion of cytogenetic damage than the usually accepted yield of dicentrics and rings.

Cells, Cultured↗
PubMed1992

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.

We describe a method, termed reverse chromosome painting, which allows the rapid analysis of the content and breakpoints of aberrant chromosomes. The method involves the sorting of small numbers of the aberrant chromosome from short term blood culture preparations or cell lines by using bivariate flow karyotype analysis. The sorted chromosomes are amplified and biotin labelled enzymatically using a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), the product annealed to metaphase spreads from normal subjects, and hybridisation detected using fluorescence in situ hybridisation (FISH). We show the usefulness of this method for routine clinical cytogenetics by the analysis of cases involving an insertion, a deletion, a translocation, and two cases of a chromosome with additional material of unknown origin. The method has particular application for the rapid resolution of the origin of de novo unbalanced chromosome duplications.

Adult↗
PubMed1978

Chromosomal aberrations and congenital heart diseases.

The incidence of chromosomal aberration with CHD is 10.5% in the autopsy cases. 2. The characteristic major cardiac malformations associated with chromosomal aberration are conal abnormality, abnormal septation and cardiac valve abnormalities. 3. The characteristic association of chromosomal aberration and CHD is CAVO in Down syndrome, triple shunts and multivalvular disease in 18 trisomy, shunts in delition syndrome and coarctation of the aorta in Turner syndrome. 4. Minor cardiac anomalies associated with chromosomal aberration are valve dysplasia such as bicuspid semilunar cusps, parachute A-V valve, thickning, deformity and insufficient differentiation of valve and of chordae tendinae and hypoplastic or immature papillary muscles. 5. Primary target in cardiovascular involvement by chromosomal aberration might be a cement property of the connective tissue which is expected to conseal the foramens and shunts and to develop valve structures in embryonic heart.

Chordae Tendineae↗
PubMed1975

Incidence of chromosome aberrations among 11148 newborn children.

Chromosome analysis has been made of 11148 children; 29 had sex chromosome abnormalities (2.60 per 1000) and 64 autosomal abnormalities (5.74 per 1000). The total incidence of major chromosome abnormalities was 8.34 per 1000. The incidence of chromosome variations was 16.8 per 1000. The most common variants were those with variation in size of short arms-satellites in D and G chromosomes and variations in Y chromosome size. So far, very little is known about the significance of such chromosome variations. The incidence of most chromosome abnormalities in liveborn children is well established by now from studies of a total of 54749 consecutively liveborn children in 6 studies as shown in Table 1. More chromosome studies of liveborn children are, however, needed for several purposes such as finding families with chromosome translocations, studying segregation rates and giving genetic advice to families with inheritable chromosome aberrations and an increased risk of getting children with unbalanced chromosome abnormalities, mental retardation and physical abnormalities. One of the main purposes in chromosome examination of newborn children is to study the development of children with different chromosome abnormalities, especially those with sex chromosome abnormalities, and compare then with controls, treat them when needed and give advice to the parents of such children.

Chromosome Aberrations↗
PubMed1976

Screening for fetal chromosome aberrations in early pregnancy.

Seven years' experience in prenatal screening for fetal chromosome aberrations in the west of Scotland is reviewed. Fetal chromosome analysis was undertaken in 716 pregnancies, 49% of which were judged to be at substantial risk of a fetal chromosome aberration. A chromosome aberration was found in 26 pregnancies, 14 of which were sufficiently severe to justify termination: the latter included nine cases of trisomic Down's syndrome, two cases of translocation, two cases of XXY Klinefelter's syndrome and one case of the triple-X syndrome. Ten pregnancies with balanced fetal chromosomal translocations and two with extra, small metacentric chromosomes of no clinical significance continued normally in pregnancy. Prenatal diagnosis permitted many mothers at risk the opportunity of having a family which otherwise they would not have attempted, and saved a number of pregnancies which would have been terminated solely on the risk, rather than the diagnosis, of fetal abnormality. An unexpectedly high frequency (6-6%) of severe fetal chromosome aberrations was found in pregnancies of mothers aged 40 years and over. In the maternal age groups 35-39 years the frequency was 1-4%. It is concluded that specialized cytogenetic facilities are urgently required to allow older mothers the option of prenatal screening. This is also required for younger mothers who have previously had a child with Down's syndrome, and for families at risk of chromosomal translocation and X-linked disease. Prenatal screening is best provided on a regional basis by a department of medical genetics experienced in genetic counselling, human cytogenetics, and cell culture techniques, working in close collaboration with obstetrical colleagues and the ultrasound department.

Amniocentesis↗