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At least 19 recordsLinked to original sources

PubMed1990

Standard karyotype of the domestic horse (Equus caballus). Committee for standardized karyotype of Equus caballus. The Second International Conference for Standardization of Domestic Animal Karyotypes, INRA, Jouy-en Josas, France, 22nd-26th May 1989.

The following decisions concerning the banded karyotype of the horse (Equus caballus) were made at the second International conference for Standardization of Domestic Animal Karyotypes, held at Jouy-en Josas, France, 22nd-26th May 1989: (1) numbering of the chromosomes was modified to correspond to an arrangement into only two groups (the non-acrocentrics and the acrocentrics) within which the autosomes are placed according to length alone; (2) a more compact karyotype arrangement was adopted: chromosomes 1 to 5 on the first row, 6 to 10 on the second, 11 to 13, and, at the far right, X and Y on the third row, 14 to 19 on the fourth row, chromosomes 20 to 25 on the fifth, and 26 to 31 on the sixth row; (3) the NOR-bearing horse chromosomes were identified as numbers 1, 28 and 31.

Animals↗

PubMed1992

Swine chromosomal DNA quantification by bivariate flow karyotyping and karyotype interpretation.

Human and swine chromosomes were analyzed separately and as a mix to obtain bivariate flow karyotypes. They were normalized to each other in order to use the human chromosomal DNA content as standard. Our results led to the characterization of the "DNA line" in swine identical to the human "DNA line." Estimation of the DNA content in mega-base pairs of the swine chromosomes is proposed. Chromosomal assignment to the various resolved peaks on the bivariate swine flow karyotype is suggested from the relation between DNA content quantified by flow cytometry and chromosomal size. Swine chromosomes 1, 13, 6, 5, 10, 16, 11, 18, and Y were assigned to peaks A, B, C, K, L, N, O, Q, and Y, respectively. Peaks D and E were assumed to contain chromosomes 2 and 14, but without specific assignment. Similarly, P and M peaks were expected to correspond to chromosomes 12 and 17. Of the remaining chromosomes (3, 7, X, 8, 15, 9, and 4), chromosomes 3, 7, and X, which were assigned previously to peaks F, G, and H, respectively, led us to deduce that chromosomes 15 and 8 belonged to peaks I and J, and chromosomes 9, 4, and X to peak H.

Animals↗

PubMed1992

Semi-automated detection of aberrant chromosomes in bivariate flow karyotypes.

A method is described that is designed to compare, in a standardized procedure, bivariate flow karyotypes of Hoechst 33258 (HO)/Chromomycin A3 (CA) stained human chromosomes from cells with aberrations with a reference flow karyotype of normal chromosomes. In addition to uniform normalization of normal and abnormal flow karyotypes, the main purpose is detection of structurally abnormal chromosomes in often complex karyotypes of tumor cells. The method, which has been implemented in a computer program, consists of a comparison of individual chromosome peaks with the positions of peaks in the flow karyotype constituted by normal chromosomes and takes into account the natural variability in base composition of normal chromosomes among healthy individuals. Flow-karyotypes are normalized using an iterative fitting procedure, using corrections for (1) amplification of HO and CA fluorescence, (2) cross-talk between the fluorescence signals of HO and CA, and (3) offset of the HO and CA origin. Flow karyotypes of two cell lines, one with a simple deletion and the other with more complex karyotypic changes, were analyzed. The results of flow analysis were found to be in general agreement with the cytogenetic analysis of quinacrine banded karyotypes.

Cells, Cultured↗

PubMed1992

Detection of latent subclones with abnormal karyotypes by long-term bone marrow cultures in cases of myelodysplastic syndrome.

Cytogenetic studies on non-adherent cells from long-term bone marrow cultures (LTBMC) were done for 23 patients with myelodysplastic syndrome (MDS) and compared with the karyotypes detected during their clinical courses. Of 14 cases with normal karyotype before culture, abnormal karyotypes were detected first in LTBMC from seven. Novel abnormal karyotypes were observed after LTBMC in two of four cases which had had both normal and abnormal karyotypes before culture. Abnormal karyotypes were also newly detected in four of five cases with only abnormal karyotypes before culture. Among 13 cases in which abnormal karyotypes were observed during the cultures, three patients showed the same karyotypes 1-11 months later in their clinical courses. These findings suggest that our LTBMC might be useful for evaluating the prognosis and choice of treatment for MDS patients.

Adult↗

PubMed1991

Automated multiple-cell karyotyping: a clinical feasibility study.

In order to increase the efficiency of the Magiscan metaphase location and karyotyping system, its software and mode of operation have been changed. In the new multiple-cell karyotyping method, interactions by the operator are only required for relocation and counting of metaphases, but not for karyotyping. Metaphases are located and their coordinates recorded automatically as before. The first metaphase in the list is relocated, displayed on the screen, and counted by the operator. It is then karyotyped automatically while the operator relocates and counts the next metaphase in the list. This procedure continues until an appropriate number of metaphases have been counted and karyotyped. Finally a composite karyotype is printed out. Each karyotype is represented by a column of 23 chromosome pairs (1-22 and XX or XY) and all columns are lined up next to each other. Most chromosomes are correctly classified into the composite karyotype. Minor structural abnormalities are detected by comparing pairs of homologues. Overlapped, close touching, and grossly abnormal chromosomes are often misclassified or rejected and shown beneath the classified chromosomes. A trained cytotechnician can easily detect even small chromosome abnormalities on the composite karyotype. A clinical feasibility study indicates that the procedure can be used for routine cytogenetic analysis.

Amniotic Fluid↗

PubMed1990

DNA-fingerprint changes compared to karyotypes in acute leukemia.

Chromosomal analysis is routinely used in follow-up studies of acute leukemia, but it cannot be used in patients who do not have karyotypic abnormalities in blastic phase (10-46% of all cases). Recently we have demonstrated that unspecific DNA-fingerprint (DNA-F) changes can be detected in blastic phase of leukemia by DNA-F analysis. These changes can be used as molecular markers of the disease and in the follow-up studies of acute leukemia karyotyping and DNA-F analysis are complementary. The comparative analyses of leukemia samples with both these methods could help to localize minisatellite loci in chromosomes and reveal new DNA areas related to leukemia. New, more specific probes targeted to specific chromosomes could consequently be developed. We compared the DNA-F to the karyotypes of 50 acute leukemia patients. In blastic phase, 19 patients had DNA-F alterations and 31 patients abnormal karyotypes, 12 patients had both DNA-F alterations and karyotypic abnormalities. DNA-F changes were detected in six of the 16 patients with normal karyotypes and 19 patients with normal DNA-F had abnormal karyotypes at the time of diagnosis. Eleven patients showed neither DNA-F changes nor abnormal karyotypes in blastic phase. Three acute myeloid leukemia (AML) patients with DNA-F changes in blastic phase had trisomy eight as a sole abnormality or combined with balanced translocation, which suggests that there might be AML associated minisatellite locus in chromosome 8. In other cases the karyotypes were complicated and no clear evidence of the relationship of DNA-F changes with other chromosomes could be found.

Acute Disease↗

PubMed1992

Correlation between omphalocele contents and karyotypic abnormalities: sonographic study in 37 cases.

To evaluate the observation that fetuses with omphaloceles containing only bowel have an especially high prevalence of karyotypic abnormalities, we retrospectively reviewed the sonograms and case records of 37 fetuses with omphaloceles detected sonographically between 1984 and 1990. Nine fetuses had concomitant morphologic abnormalities characteristic of the amniotic band syndrome. Of the remaining 28 fetuses, karyotypic correlation was available in 22, and the karyotype was abnormal in five of these (23%). The omphaloceles contained liver in 22 fetuses and only bowel in six fetuses. Among fetuses with exteriorized liver, karyotypes were abnormal in one (6%) of 16 tested. In contrast, four (67%) of the six fetuses whose omphaloceles contained only bowel had abnormal karyotypes; for each of these four, sonograms showed morphologic abnormalities in addition to the omphalocele. In the two fetuses with bowel-only omphaloceles and normal karyotypes, the omphalocele was the only abnormality seen on sonograms, and these children are well after surgical repair. When fetuses with the amniotic band syndrome were excluded, sonograms showed concomitant anomalies in 15 fetuses with liver-containing omphaloceles, and the karyotype was abnormal in only one of these 15. The results of this study support previous observations that karyotypic abnormalities are more common in association with omphaloceles that contain only bowel compared with those that contain only liver. If we combine our data with data from three other studies that address this issue, 87% of fetuses with omphaloceles containing only bowel had an abnormal karyotype, a significantly higher rate than in those fetuses whose omphaloceles contained liver also (9%).

Amniotic Band Syndrome↗

PubMed1991

Characterization of somatic cell hybrids by bivariate flow karyotyping and fluorescence in situ hybridization.

We report on the use of flow karyotyping and fluorescence in situ hybridization (FISH) to characterize the human chromosomes in somatic cell hybrids. The identity, DNA content, and relative frequency of human chromosomes are derived from flow karyotypes, i.e., measurements of Hoechst and chromomycin fluorescence intensities of chromosomes by dual beam flow cytometry. Chromosome integrity is assessed by comparing the peak position of a human chromosome in the flow karyotypes of a hybrid cell line and its human donor. When human donor cells are unavailable, the peak position of a human chromosome in a hybrid line is compared to the range of peak positions among normal individuals. The relative frequency of human chromosomes in subclones or hybrids grown in culture is monitored using the volumes of peaks in flow karyotypes. FISH with biotinylated human genomic DNA or chromosome-specific repeat sequence as probe is used in conjunction with flow karyotyping to confirm the number of human chromosomes in hybrids. Some small rearrangements are detected by flow karyotyping and not by FISH. On the other hand, translocations between human and rodent chromosomes are detected by FISH and not always by flow karyotyping. Flow karyotyping and FISH were used to characterize over 100 hybrid lines donated by other laboratories. A hybrid set useful for the construction of chromosome-enriched gene libraries is presented. In this set, each of the 24 human chromosome types is present and intact, as judged by these techniques, in a line containing little or no other human material.

Animals↗

PubMed1990

Clonal karyotype abnormalities and clinical progress in the myelodysplastic syndrome.

Clonal karyotype abnormalities in 124 patients with myelodysplastic syndrome are reviewed. 36% of patients had abnormalities at referral, the most common being 5q-, +8 and lesions of chromosomes 7 and 20. Reduced survival was associated with the presence of either single or multiple clonal abnormalities at referral, abnormalities of chromosome 7 or 8 (either alone or with other lesions) and exclusively abnormal metaphases. The presence of 5q- alone did not appear to affect survival. Sequential studies were carried out in 77 patients of whom 12 showed karyotypic evolution. Reduced survival was observed in patients with an evolving karyotype but appeared to be due almost entirely to evolution in those patients whose initial karyotype was normal. Leukaemic transformation occurred more commonly in patients with an abnormal karyotype, particularly those with multiple abnormalities, and in patients with an evolving karyotype. Although the first appearance of an abnormal karyotype or an apparent evolution are important phenomena, it is probable that in some cases they merely represent expansion of a previously existing clone that has escaped detection. The distinction between true karyotypic evolution or clonal expansion and statistical variations due to small sample size and variability of samples may be difficult but needs to be taken into account in considering clinical significance.

Adult↗

PubMed1976

Chromosomes and causation of human cancer and leukemia. XI. Correlation of karyotypes with clinical features of acute myeloblastic leukemia.

Acute myeloblastic leukemia (AML) patients with chromosomal abnormalities in their bone marrow cells were divided into those with minor karyotypic abnormalities (MIKA) and those with major karyotypic abnormalities (MAKA). One of the largest subgroups in the MIKA group was shown to have cytologic characteristics typical of so-called "classical" AML and a "prototypic" karyotype, which has been shown to be due to translocation between chromosomes number 8 and number 21. A missing Y chromosome in AML was mostly associated with this karyotype. Patients of the MAKA group were usually erythroleukemic, had no or very few normal metaphases among the abnormal ones in the marrow, and almost invariably showed karyotypic instability. Karyotypic differences did not affect the patients' survival after the initiation of chemotherapy as much as did the presence or absence of normal metaphases. However, the karyotypes do appear to be relevant to the decision as to whether a patient should be administered chemotherapy when no normal metaphases are found on the initial bone marrow examination.

Adolescent↗

PubMed1990

Sequential karyotypes in non-Hodgkin lymphoma: their nature and significance.

The examination of sequential karyotypes in hematologic disorders has demonstrated that karyotypic changes are often associated with concurrent changes in clinical behavior. Acquired abnormalities that recur among different patients may also suggest genomic areas important to tumor progression. We therefore examined sequential karyotypes in 21 patients with non-Hodgkin lymphoma (NHL). Sixteen of the 21 karyotypes demonstrated changes, including the majority of 6 small lymphocytic, 11 follicular, and 4 intermediate and high-grade diffuse lymphomas. The t(14;18)(q32;q21) occurred in ten initial karyotypes was retained in all cases. The band most frequently affected by newly acquired abnormalities was 14q32 (n = 5); chromosomes 1 and 2 (n = 5, each), and the 17p arm (n = 4) were also commonly affected. The acquired deletion of all or part of 17p appeared to be associated with a poor prognosis. Histologic transformation and karyotypic change did not correlate. This study of sequential karyotypes in NHL 1) confirms the primary importance of the t(14;18), 2) suggests that the 14q32 band is involved frequently in both primary and secondary cytogenetic events, and 3) suggests other genomic regions of potential significance to progression.

Adult↗

PubMed1992

Interphase cytogenetics on paraffin sections of malignant pleural mesothelioma. A comparison to conventional karyotyping and flow cytometric studies.

We performed in situ hybridization (ISH) studies of malignant pleural mesotheliomas to detect numerical aberrations of chromosomes 1 and 7 in interphase nuclei of paraffin sections of 13 cases that had been analyzed previously by conventional karyotyping and flow cytometry. The hybridizations were performed with the biotin-labeled probes recognizing repetitive DNA sequences in the (peri)centromeric regions of chromosomes 1 (1q12) and 7(7cen). Application of histologic sections allowed us to analyze the tumor cells only. Comparison of the karyotype and ISH studies showed that the same chromosome copy numbers were detectable by both methods in 13 (chromosome 1) and in 12 (chromosome 7) cases evaluable by ISH. DNA indexes determined in the paraffin-embedded tumor material corresponded with the ISH findings. As compared with karyotype analysis, ISH showed a larger heterogeneity in chromosome copy numbers. The results can be divided into three groups: 1) Monosomy or disomy of chromosomes 1 and 7 was detected by both methods in two cases; 2) in four cases, disomy of both chromosome 1 and 7 was observed in most of the cells by ISH analysis, and karyotype analysis had shown clear polyploidization in three of these cases; 3) in seven cases, supernumerary copies of chromosomes 1 and/or 7 were present in an evident fraction (27-80%) of the cells analyzed by ISH, and karyotype analysis confirmed the aberrant copy numbers in five of these cases. On the other hand, ISH showed copy numbers not detected by karyotype analysis in six of the seven cases. Thus, by combining karyotype and interphase cytogenetic studies, complementary information about chromosomal aberrations in mesothelioma is obtained.

Chromosome Aberrations↗

PubMed1991

Management of prenatally detected nonlethal fetal anomalies: is a karyotype of benefit?

The pregnancy outcomes of 155 women who underwent an amniocentesis for a prenatal karyotype after being diagnosed by ultrasound as having one or more nonlethal structural anomalies are presented. Thirty-three (21%) patients were found to have an abnormal karyotype. Knowledge of the prenatal karyotype was useful in the subsequent management of these pregnancies. A pregnancy with a fetal anomaly diagnosed prior to 24 weeks was more likely to be terminated if an abnormal karyotype was also present. In women who were diagnosed as having a fetal anomaly with an abnormal karyotype at 24 weeks or later, only 3 of 13 (23%) infants survived the neonatal period. Knowledge of the karyotype results influenced decisions regarding the place, timing, and route of delivery in these fetuses. In 32 women, (21%) a karyotype was beneficial by avoiding maternal transport, cesarean delivery, and neonatal expenses at a Level III perinatal center.

Abortion, Induced↗

PubMed1992

Susceptibility of owl monkeys to Plasmodium falciparum in relation to hemoglobin and karyotype.

Humans with inherited abnormalities of hemoglobin (Hb) synthesis have less frequent and less severe infections of malaria. This study sought to determine if karyotypic variation in the owl monkey was expressed as differences in Hb moieties and if it offered a selective advantage in susceptibility to malaria. Five karyotypes of owl monkey were evaluated on the basis of the electrophoretic mobility of their major and minor Hb components. The results of 40 owl monkeys of different karyotypes demonstrated that statistically significant differences exist among karyotype I animals and those with karyotypes II, III, and V, particularly with regard to their HbA2 concentrations. This finding is of interest in light of the fact that karyotype I animals are considered to be less susceptible to infection with human strains of Plasmodium falciparum than karyotypes II, III, and V, which are viewed as being highly susceptible.

Analysis of Variance↗

PubMed1992

Formation of a hyperdiploid karyotype in childhood acute lymphoblastic leukemia.

Hyperdiploidy with greater than or equal to 50 chromosomes is a frequent and distinct karyotypic pattern in the malignant cells of children with acute lymphoblastic leukemia. To understand better the mechanism of formation of the hyperdiploid karyotype, we studied 15 patients using 20 DNA probes that detect restriction fragment length polymorphisms. We first examined disomic chromosomes for loss of heterozygosity. Two patients had widespread loss of heterozygosity on all informative disomic chromosomes, and represent cases of near-haploid leukemia in which the chromosomes doubled. One other patient had loss of heterozygosity limited to chromosome 3; in this patient all of seven other informative disomic chromosomes retained heterozygosity. Loss of heterozygosity was not detected in the remaining 12 patients on a total of 87 informative disomic chromosomes. We then examined tetrasomic chromosomes for parental dosage. Of the 13 patients in whom widespread loss of heterozygosity was not present, 11 patients had tetrasomy 21; 10 of 11 (91%) had an equal dose of maternal and paternal alleles on chromosome 21 and only 1 of 11 (9%) had an unequal dose of parental alleles in a 3:1 ratio. These results suggest that the hyperdiploid karyotype usually arises by simultaneous gain of chromosomes from a diploid karyotype during a single abnormal cell division, and occasionally by doubling of chromosomes from a near-haploid karyotype. The hyperdiploidy in cases without widespread loss of heterozygosity is not caused by stepwise or sequential gains from a diploid karyotype or by losses from a tetraploid karyotype; the former should result in a 3:1 parental dosage for 67% of tetrasomic chromosomes (9% observed) and the latter should result in loss of heterozygosity for 33% of disomic chromosomes (1% observed). Additional studies of the molecular basis for this leukemia subtype are warranted.

Adolescent↗

PubMed1991

Background and peak evaluation of one parameter flow karyotypes on a PC/AT computer.

Flow cytometry has become a fast, quantitative method for the classification of metaphase chromosomes in suspension (flow karyotyping) stained with fluorescent dyes. Such a flow karyotype (frequency distribution of the fluorescence signals) consists of several peaks. The peak pattern characterizes the analyzed chromosome complement. In many cases flow karyotypes contain a continuum of an unspecific background deriving from chromosome fragments or chromosome aggregates. For the quantitative evaluation of a flow karyotype this background has to be subtracted by a suitable background function. In this approach the application of chi 2-functions is described. The feasibility of this method to flow karyotypes has been concluded from a computer simulation of chromosome breaking under different conditions. In spite of the rather rough assumptions of the model compared to the complex reasons that influence chromosome breaking, the chi 2-function fits the background better than the exponential function in current use. The approximation of a Gaussian distribution function by the chi 2-function also makes it possible to use the same subtraction procedure for chromosome aggregates. The procedure was tested for isolated chromosomes of Chinese hamster cell lines under different states of breaking. For further evaluation of one parameter flow karyotypes a setup of computer routines has been developed for PC/AT and compatible computer systems. Different peak values of these flow karyotypes can be determined (e.g. peak mean, standard deviation, absolute and relative peak area etc.). The applied method is to fit Gaussian curves to each peak of an experimentally measured histogram by using an interactive program. Fluctuations depending on 'noise' may be suppressed by a 'k-nearest-neighbours' smoothing procedure.

Animals↗

PubMed1990

Karyotypic changes from initial diagnosis to relapse in childhood acute leukemia.

Cytogenetic study was performed at both diagnosis and relapse in 31 children with acute leukemia who had initially abnormal karyotypes, 21 with acute lymphocytic leukemia (ALL) and 10 with acute nonlymphocytic leukemia (ANLL). Seventy percent of the patients showed karyotypic changes between diagnosis and relapse. The ALL patients showed karyotypic changes more often than the ANLL patients (76 vs. 40%)(chi-square test, p less than 0.05). All the initially abnormal patients with karyotypic changes exhibited structural changes, most frequently chromosome 1 abnormalities, especially in ANLL, and 6q-, 7p-, 9p- in ALL. Half of the patients, with structural karyotypic change had two or more clonally related cell lines at relapse. On the other hand, only 20% of the patients with karyotypic changes showed numerical changes. All but one of the initially abnormal patients showed karyotypic changes involving the original cytogenetically abnormal clone. Our study demonstrated that sequential cytogenetic studies may provide a better understanding of the nature of leukemia relapse.

Acute Disease↗

PubMed1990

Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping.

Quantification of the Hoechst and chromomycin A3 fluorescence intensities of mitotic human chromosomes isolated from karyotypically normal and abnormal cells was performed with a dual beam flow cytometer. The resultant flow karyotypes contain information about the relative DNA content and base composition of chromosomes and their relative frequencies in the mitotic cell sample. The relative copy number of X and Y chromosomes was determined for 38 normal males and females and 6 cell lines with X or Y chromosome aneuploidy. Flow karyotype diagnoses corresponded with conventional cytogenetic results in all cases. We show that chromosome DNA content can be derived from peak position in Hoechst vs. chromomycin flow karyotypes. These values are linearly related to propidium iodide staining intensity as measured with flow cytometry and to the binding of gallocyanin chrome alum to phosphate groups as measured with slide-based scanning photometry. Cell lines with deleted or dicentric X chromosomes ranging in length from 0.53 to 1.95 times normal were analyzed by using flow cytometry. The measured difference in DNA content between a normal X and each of the structurally abnormal chromosomes was linearly correlated to the difference predicted from cytogenetics and/or probe analyses. Deletions of 3-5 Mb, which were at and below the detection limits of conventional cytogenetics, could be quantified by flow karyotyping in individuals with X-linked diseases such as Duchenne muscular dystrophy, choroideremia, and ocular albinism/ichthyosis. The results show that the use of flow karyotyping to quantify the size of restricted regions of the genome can complement conventional cytogenetics and other physical mapping techniques in the study of genetic disorders.

Aneuploidy↗