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At least 1,189 records · Page 66Linked to original sources
PubMed1994

Direct assessment of the rate of chromosomal abnormalities in grade IV human embryos produced by in-vitro fertilization procedure.

During in-vitro fertilization (IVF) procedures, human preimplantation embryos were classified into four grades according to their morphological appearance under light microscopy. The grade IV group included poor quality embryos. In our IVF programme, these embryos were never transferred or frozen, and were thus available for cytogenetic analysis. Cytogenetic analysis was performed on 411 grade IV embryos from 327 couples participating in the IVF programme. A total of 118 embryos were successfully karyotyped using at least one metaphase. Normal diploid chromosomes were found in only 12 embryos, containing a total of 19 metaphases. All others (90%) showed abnormal or aberrant chromosome complements; 48 were aneuploid and six cases of single chromatids were noted; 14 embryos (11.8%) contained haploid complements, while the remaining 44 exhibited mosaics (2n/3n, n/2n, n/3n) or fragmented chromosome sets. Also, several structural aberrations and rearrangements were observed. These results indicate that the large majority of grade IV human embryos are chromosomally abnormal. This confirms the morphological assessment of the poor quality of these embryos and demonstrates the uselessness of both the transfer and the cryopreservation of grade IV embryos.

Blastocyst↗
PubMed1981

Chromosome abnormalities in Down's syndrome patients with acute leukemia.

Chromosome and cytologic studies were performed on three Down's syndrome (DS) patients with acute nonlymphocytic leukemia (ANLL). All three patients had an aneuploid clone in their leukemic cells: 50, XX, +6, +19, +21, +22, +8, XX, +21, and 47,XY, +8, - 21 +dic(21;21)(p13;p11). Every patient appeared to have acute undifferentiated leukemia when the blast cells were examined with Wright-Giemsa stain; cytochemistry studies, however, showed that the leukemic blasts were in an early stage of myeloid differentiation. The two patients with +8 had a preleukemic phase; the blast cells of the patient with an extra no. 19 and no.22 could not be differentiated morphologically from those of the two patients with an extra no. 8. Our findings and a review of data on 40 other patients suggest that most DS children with ANLL have hyperdiploidy, which is usually related to gains of C, F, and /or G chromosomes, and that the abnormalities of +8 and of +19, +22 in DS children may be associated with acute leukemia (AL) in an early stage of myeloid differentiation.

Acid Phosphatase↗
PubMed2001

[Ultrasound indications of fetal chromosome abnormalities in the 2nd trimester].

The most common fetal chromosomal disorders have structural abnormalities, which can be detected during second trimester ultrasound examination. Major malformations, also known as hardmarkers, when single or in combination, should raise the suspicion for a specific syndrome. But it is known, that even more subtile findings can increase the background risk based on the maternal age, especially for Down syndrome. A combination of these so called "soft-markers" can be used for second trimester screening in a high and low risk population. Here were report on the sonographic features of the common chromosomal anomalies and their significance in prenatal diagnosis.

Adult↗
PubMed1975

Chromosomal abnormalities in maternal and fetal tissues of magnesium- or zinc-deficient rats.

The effect of dietary deficiency during pregnancy of zinc or magnesium on maternal and fetal chromosomes was studied. Pregnant rats were given a zinc-deficient or a magnesium-deficient diet from the beginning of pregnancy and maternal bone marrow and fetal liver were removed on day 19 of gestation. Chromosome spreads were prepared and metaphases examined for abnormalities. Both magnesium- and zinc-deficient maternal bone-marrow and fetal liver cells showed significantly more chromosomal abnormalities than did those of controls. The chromosomal aberrations occurring in highest incidence in magnesium-deficient animals were terminal deletions and fragments. A higher than normal incidence of "stickiness" was also observed in cells from magnesium-deficient animals. In zinc-deficient animals, on the other hand, the chromosomal aberrations with the highest incidence were gaps and terminal deletions.

Animals↗
PubMed1984

Chromosome abnormalities in mice with Hertwig's anemia.

Mice with the recessive hereditary disease, Hertwig's anemia (an/an), exhibit a persistent mild macrocytic anemia and reduced fertility. We examined mitotic figures from bone marrow and kidney cells of adult mice and from liver cells of fetal mice that were genetically normal or had Hertwig's anemia. Uniformly normal mitotic figures were observed in the nonanemic mice (+/+ or +/an). In contrast, 5% to 15% of the mitotic figures were abnormal in mice homozyous for Hertwig's anemia (an/an). These aberrant cells were hyperploid, containing more than the normal complement of c40 chromosomes, but fewer than 80 chromosomes. Cells with abnormal numbers of chromosomes may show decreased viability or proliferative capacity. The occurrence of such abnormal cells in an/an mice could explain (1) the loss of progenitor stem cells during erythroid maturation, resulting in an anemic phenotype; and (2) the depletion of germ cells during ontogeny, resulting in reduced fertility.

Anemia↗
PubMed1999

Widespread chromosomal abnormalities in high-grade ductal carcinoma in situ of the breast. Comparative genomic hybridization study of pure high-grade DCIS.

For a variety of technical reasons it is rarely possible to study cytogenetic abnormalities in ductal carcinoma in situ (DCIS) using traditional techniques. However, by combining molecular biology and computerized image analysis it is possible to carry out cytogenetic analyses on formalin-fixed, paraffin-embedded tissue, using comparative genomic hybridization (CGH). The purpose of this study was to identify the prevalence of chromosomal amplifications and deletions in high-grade DCIS and to look specifically for unique or consistent abnormalities in this pre-invasive cancer. Twenty-three cases of asymptomatic, non-palpable, screen-detected, high-grade DCIS were examined using CGH on tumour cells obtained from histology slides. All cases showed chromosomal abnormalities. A wide variety of amplifications and deletions were spread across the genome. The most frequent changes were gains of chromosomes 17 (13 of 23), 16p (13 of 23), and 20q (9 of 23) and amplifications of 11q13 (22 of 23), 12q 24.1-24.2 (12 of 23), 6p21.3 (11 of 23), and 1q31-qter (6 of 23). The most frequent deletions were on 13q 21.3-q33 (7 of 23), 9p21 (4 of 23), and 6q16.1 (4 of 23). These findings indicate that high-grade DCIS is, from a cytogenetic viewpoint, an advanced lesion. There was no absolutely consistent finding in every case, but amplification of 11q13 was found in 22 of the 23 cases. The precise significance of this is unknown at present. This region of chromosome 11q harbours a number of known oncogenes, including cyclin D1 andINT2. It is likely that many of these findings are the result of accumulated chromosomal abnormalities, reflecting an unstable genome in established malignancy.

Breast Neoplasms↗
PubMedDate not supplied

[Chromosome abnormalities in male sterility].

A study of the caryotype in 281 cases of male secretory sterility. Chromosomal anomalies were found in 81 cases, i.e. 78 cases, of azoospermia, 3 cases of oligospermia. Barr bodies were found in 66 cases of Klinefelter syndrome or one of its varieties. In the remaining 15 cases, there was no Barr chromatin: 7 of them bore gonosomal abnormalities with or without mosaicism. In 8 cases reciprocal translocations were found: in 2 of them a sexual chromosome was involved. The high rate of chromosomal anomalies should be stressed: every male secretory sterility, especially with azoospermia, warrants a chromosomal study. In the group of translocations, FSH and LH rates are not elevated in spite of the existence of azoospermia, whereas they are consistently increased in all the other chromosomal abnormalities: this so far undescribed phenomenon has no present explanation. The role played by translocations in male secretory sterility, although difficult to understand, is well documented, since translocations occur ten times more frequently in male sterility than in the general population.

Chromosome Aberrations↗
PubMed1989

Unknown primary tumors: establishment of cell lines, identification of chromosomal abnormalities, and implications for a second type of tumor progression.

We describe the establishment of two human unknown primary tumor (UPT) cell lines and a comparison of their cytogenetic properties with two direct harvests from two tumor biopsy specimens. Histopathological analysis of all four tumor specimens revealed them to be undifferentiated adenocarcinomas of unknown origin. The chromosome numbers in these samples vary between 38 and 144. Consistent structural anomalies involving chromosome 1 were observed in all cases. These included a deletion of the short arm (4 of 4), duplication of 1q (3 of 4) and the presence of homogeneously staining region (2 of 4). Several additional chromosomal changes involving chromosomes 7, 8, and 9 were also observed, but these were less consistent and their importance is not yet clear. Abnormalities in chromosome 1 have generally been associated with advanced malignancy. The finding of consistent chromosome 1 changes in UPT supports our hypothesis that these are type 2 progressors in that benign or less malignant stages are not readily identified. In short, UPT are likely malignant soon after transformation occurs, and this is reflected in their rapid acquisition of the metastatic phenotype and abnormalities in chromosome 1. We are therefore characterizing a number of additional UPT cases to determine if chromosome 1 and other cytogenetic changes are consistently associated with this unique subgroup of tumors.

Animals↗
PubMed1988

Nonrandom chromosomal abnormalities in malignant pleural mesothelioma.

Cytogenetic studies were performed on tumor cells from specimens of 30 consecutive patients with malignant pleural mesothelioma. Metaphases for chromosomal G-banding analyses were obtained from 27 of these patients. Clonal abnormalities were detected in 19 patients. Karyotype findings were complex and heterogeneous: aneuploidy, polyploidy, structural abnormalities, and several subclones were seen. The most frequent chromosomal abnormalities were polysomy or partial polysomy 7, monosomy or partial monosomy 22, and rearrangements involving breakpoints at 1p11-22.

Adult↗
PubMed1984

Fourth International Workshop on Chromosomes in Leukemia 1982: Clinical significance of chromosomal abnormalities in acute nonlymphoblastic leukemia.

Seven hundred sixteen newly diagnosed patients were studied, to determine the clinical significance of chromosome analysis in ANLL. Karyotypes were classified in two ways. Cases were grouped into three categories, based on the presence of normal and abnormal metaphases. Cases were grouped into 12 categories based on more specific chromosome abnormalities (modified Chicago Classification). Both methods of classifying karyotypes, but especially the Chicago Classification, resulted in groups of patients with de novo ANLL with significantly different presenting clinical and hematologic features, including FAB type, leukocyte count, percent peripheral myeloblasts, platelet count, and DIC. Among patients with de novo ANLL, karyotypes, when classified according to the Chicago Classification, significantly correlated with frequency of initial complete remission and survival; the presence of normal and abnormal metaphases correlated with duration of first remission and survival. Among 305 intensively treated patients, the Chicago Classification also correlated with duration of first remission. Although both ways of classifying karyotype correlated with survival, even when other major risk factors in ANLL were considered, only the Chicago Classification was an independent prognostic factor among the intensively treated patients.

Acute Disease↗
PubMed1989

Chromosomal abnormalities in Hodgkin's disease.

In the hematologic malignant diseases, specific cytogenetic abnormalities correlate with clinical, morphologic, and immunophenotypic features. Although relatively little is known regarding the karyotypic pattern of Hodgkin's disease, it is clear that the involvement of specific chromosomes in numerical and structural abnormalities is nonrandom. Hyperdiploidy is a characteristic feature of Hodgkin's disease and is observed in 70 per cent of tumors that have an abnormal karyotype. A gain of chromosomes 1, 2, 5, 12, and 21 is a recurring numerical abnormality; structural rearrangements involving chromosome 1 are frequently observed. Perhaps as a result of the relatively small number of cases that have been analyzed, recurring structural abnormalities have not yet been identified; it has also not been possible to determine whether the various histologic subtypes of Hodgkin's disease are characterized by unique abnormalities. The prognostic significance of cytogenetic abnormalities in Hodgkin's disease is unclear; however, preliminary results suggest that the karyotype may have prognostic importance in this disease. The correlation of the cytogenetic pattern with the clinical and morphologic features will be essential in evaluating the clinical and biologic significance of chromosomal abnormalities in Hodgkin's disease.

Aneuploidy↗
PubMed1975

Chromosomal abnormalities and the morphology of mouse sperm heads.

In the mouse, numerous mutagens, teratogens and carcinogens have been shown to induce marked elevations in the fraction of sperm with head shape abnormalities. Since carcinogens and teratogens may act by causing genetic damage, a likely explanation of these results is that the sperm abnormalities are also caused by genetic damage. There are two more or less distinct classes of genetic damage, chromosomal aberrations and point mutations. In this paper, we provide evidence, that in general, chromosomal aberrations are not responsible for causing abnormally shaped sperm. Chromosomal aberrations could have caused abnormal sperm morphology in a number of ways. One possibility was that the mere presence of a translocated chromosome within the germ cell led to the malformation of the sperm head. A second possibility was that chromosomal imbalance, i.e., aneuploidy, duplications or deficiencies, within the spermatid or haploid cells caused abnormalities in shape. We tested these hypotheses by measuring the level of abnormally shaped sperm in mice homozygous and heterozygous for 24 various reciprocal and Robertsonian translocations. The diploid cells of these mice are known to be chromosomally balanced, containing translocated chromosomes. A predictable proportion of their gametes are, however, chromosomally unbalanced and carry translocated chromosomes. It was found that the levels of sperm abnormalities in these mice were convincingly unrelated to the levels predicted by any of the above hypotheses. Based on these results it seems that sperm abnormalities in mice are not due to the mere presence of translocated chromosomes in germ cells and also not due to chromosomal aneuploidy or duplication-deficiencies of chromosomal segments in the spermatid during development of the sperm.

Aneuploidy↗