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At least 775 records · Page 43Linked to original sources
PubMed1996

Detection of numerical chromosome abnormalities by FISH in childhood acute lymphoblastic leukemia.

Fluorescence in situ hybridization (FISH) was performed on interphase bone marrow cells to study numerical chromosome abnormalities in childhood acute lymphoblastic leukemia (ALL). Ten patients were selected for this study on the basis of having an extra chromosome 6 in the abnormal clone of the bone marrow at diagnosis. The numerical changes that were detected by FISH with a chromosome 6 specific alpha-satellite DNA probe correlated well with the cytogenetic and clinical data in all patients. Three hybridization signals were seen in 43.8--83.0% of interphase cells in the specimens with a hyperdiploid karyotype. The diagnostic bone marrow sample of the patient with a tetraploid karyotype revealed four signals in 67.0% of cells. Two signals were detected in the majority of the cells in the three nonleukemic control bone marrow samples (97.0--97.7%), assessing the cut-off value of about 1% for trisomy 6. This study demonstrates that FISH analysis is a useful and sensitive tool to screen for the presence of extra chromosomes in interphase cells and is important clinically for evaluating the achievement and maintenance of remission in hyperdiploid childhood ALL. However, to detect structural chromosome aberrations which carry important diagnostic and prognostic information, as seen in our patient with the translocation t(1;19) at diagnosis but not at relapse, conventional cytogenetic analysis should be performed both at diagnosis and at relapse.

Adolescent↗
PubMed1998

Chromosome abnormalities in squamous cell carcinoma of the urethra.

Cytogenetic analysis of short-term cultured cells from a urethral squamous cell carcinoma showed the tumor to have an abnormal, karyotypically complex near-diploid clone as well as its near-tetraploid duplicate. This is the first urethral carcinoma with chromosomal abnormalities to be reported. Chromosomes Y, 2, 3, 4, 6, 7, 8, 11, and 20 were all involved in numerical and/or structural rearrangements. Of particular interest was the fact that no rearrangements of chromosomes 9 and 17, both almost ubiquitously involved in transitional cell carcinoma of the urinary tract, were seen.

Aged↗
PubMed2002

Second trimester ultrasound screening for chromosomal abnormalities.

The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down syndrome. The genetic sonogram, involving a detailed search for sonographic signs of aneuploidy, can be used to both identify fetuses at high risk for aneuploidy and, when normal, can be used to decrease the risk for aneuploidy for a pregnancy when no sonographic markers are identified. Combining the genetic sonogram with maternal serum screening may be the best method of assessing aneuploidy risk for women who desire such an assessment in the second trimester. Trisomy 18, Trisomy 13, and triploidy are typically associated with sonographically identified abnormalities and have a high prenatal detection rate. The use of the described sonographic signs in low-risk women requires further investigation, however, patients at increased risk for aneuploidy due to advanced maternal age or abnormal serum screening can benefit from a genetic sonogram screening for sonographic signs of aneuploidy to adjust their baseline risk of an affected fetus.

Aneuploidy↗
PubMed2001

Increased incidence of numerical chromosome abnormalities in spermatozoa injected into human oocytes by ICSI.

The potential risk of transmitting chromosomally abnormal spermatozoa from infertile males into oocytes through intracytoplasmic sperm injection (ICSI) has prompted us to investigate the male pronuclei of tripronuclear zygotes (3PN) obtained after ICSI. To specify the type of anomalies, we used triple colour fluorescent in-situ hybridization (FISH) with three specific probes for chromosomes X, Y and 18. From a total of 163 paternal complements of ICSI-3PN zygotes, 90 (55.2%) had Y-chromosome signals. Eighty-three of these were normal, four had the disomy XY and three were diploid. In the remaining 73 ICSI-3PN zygotes without Y-chromosome signals, the origin of paternal pronuclei was extrapolated through chromosome constitution of the first polar body. Five anomalies were found in this group of zygotes, giving a total rate of numerical chromosome aberrations for fertilizing spermatozoa of 7.4%. In contrast to ICSI, only two disomies (1.5%) were found in the control group of IVF-3PN zygotes. Compared with the incidence of chromosome anomalies between paternal-derived pronuclei of ICSI- and IVF-3PN zygotes, the difference was statistically significant (P < 0.025). This study provides the first direct evidence of a higher incidence of numerical chromosome anomalies in sperm-fertilized human oocytes after ICSI.

Chromosome Aberrations↗
PubMed1997

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

Karyotype analysis by chromosome banding is the standard method for identifying numerical and structural chromosomal aberrations in pre- and postnatal cytogenetics laboratories. However, the chromosomal origins of markers, subtle translocations, or complex chromosomal rearrangements are often difficult to identify with certainty. We have developed a novel karyotyping technique, termed spectral karyotyping (SKY), which is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors. Here, we report the comprehensive karyotype analysis of 16 samples from different cytogenetic laboratories by merging conventional cytogenetic methodology and spectral karyotyping. This approach could become a powerful tool for the cytogeneticists, because it results in a considerable improvement of karyotype analysis by identifying chromosomal aberrations not previously detected by G-banding alone. Advantages, limitations, and future directions of spectral karyotyping are discussed.

Chromosome Aberrations↗
PubMed1984

High incidence of chromosome abnormalities in IgG3 myeloma.

Chromosomes were studied in 33 untreated myeloma patients, and results were correlated with the class of Ig secreted by the myeloma cells. A high incidence of clonal karyotypic anomalies seemed to be present in IgG3 myeloma patients, in whom the disease was advanced at diagnosis and rapidly progressing. Among the chromosome anomalies, the t(11;14)(q14;q32) was particularly prominent, and this chromosome anomaly, in analogy with the Ph1 chromosome, may characterize a family of lymphoproliferative disorders.

Adult↗
PubMed1997

[Mutation chromosome bows (chb-v40), inducing the abnormal chromosome spindle in Drosophila melanogaster].

Highly polyploid cells were detected in ganglia of Drosophila melanogaster larvae homozygous for the chbv40 mutation (78D) resulting from insertion of the P[lArB] construction. Frequency distribution of metaphases differing in chromosome number showed that the primary defect caused by the mutation involved formation of the unipolar chromosome spindle. This was confirmed directly by cytological analysis. Circular mitotic figures (CMF), i.e., circles of chromosomes with centromeres pointing inward and chromatid arms pointing outward, were also observed in neuroblasts of the homozygotes. Such structures are characteristic of polo and mgr mutations that alter the functions of the centrosome.

Animals↗
PubMed1978

A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities.

A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported. The chromosomes of all patients were studied using both a non-banding and a G-banding technique in order to estimate the relative efficiency of the two technique in detecting structural rearrangements of the chromosomes. A total of 57 patients was found to have a chromosome abnormality, including five with a balanced structural rearrangement. The contribution of chromosome aberrations to the etiology of mental retardation is discussed with special emphasis on the contribution of balanced structural rearrangements.

Adolescent↗
PubMed1985

Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy.

The effect of maternal age on the incidence of chromosomally normal spontaneous abortion and different categories of chromosome abnormality among all clinically recognized human pregnancies was evaluated. The results provide no evidence for a significant association of age with sex chromosome monosomy or polyploidy, but clearly demonstrate an effect of age on the frequency of trisomy and chromosomally normal spontaneous abortions. Estimated maternal age-specific rates of trisomy among all recognized pregnancies were calculated and suggest that a majority of oocytes of women aged 40 years and older may be aneuploid.

Abortion, Spontaneous↗
PubMed1986

Oncogenes and a specific chromosomal abnormality associated with small-cell lung cancers.

Studies on oncogenes and a specific chromosomal abnormality involved in small-cell lung cancers are reviewed. Amplification and/or expression of one of the three myc family oncogenes (c-myc, N-myc, L-myc) were found in 21 of 31 small-cell lung cancers. However, oncogenes were not detected in DNAs of small-cell lung cancers by the NIH3T3 transfection assay. In addition, a specific deletion on the short arm of chromosome number 3 was often associated with small-cell lung cancers. These characteristics are quite different from those of non-small-cell lung cancers.

Carcinoma, Small Cell↗
PubMed2004

Possible causes of chromosome instability: comparison of chromosomal abnormalities in cancer cell lines with mutations in BRCA1, BRCA2, CHK2 and BUB1.

A large proportion of epithelial cancers show the chromosome-instability phenotype, in which they have many chromosome abnormalities. This is thought to be the result of mutations that disrupt chromosome maintenance, but the causative mutations are not known. We identified cell lines known to have mutations that might cause chromosome instability, and examined their karyotypes. Two cell lines, the breast cancer line HCC1937 and the pancreatic cancer line CAPAN-1, that have mutations respectively in BRCA1 and BRCA2, had very abnormal karyotypes, with many structural and numerical chromosome changes and substantial variation between metaphases. However, two colorectal cancer lines with mutations in BUB1, a spindle checkpoint protein involved in chromosome segregation, had rather simple near-tetraploid karyotypes, with minimal loss or gain of chromosomes other than the endoreduplication event, and minimal structural change. Apart from tetraploidy, these karyotypes were typical of colorectal lines considered to be chromosomally stable. Two lines derived from the same tumour, DLD-1 and HCT-15, with bi-allelic mutation of CHK2, had karyotypes that were typical of near-diploid colorectal lines considered chromosomally stable. The karyotypes observed supported the proposed role for BRCA1 and BRCA2 mutations in chromosomal instability, but showed that the tested mutations in BUB1 and CHK2 did not result in karyotypes that would have been predicted if they were sufficient for chromosomal instability.

Adenocarcinoma↗
PubMed1996

Colcemid increases the frequency of chromosome abnormalities in human sperm.

The effect of Colcemid on the frequency and type of chromosomal abnormalities in human sperm was investigated. Using the human sperm and zona-free hamster egg fusion technique, penetrated eggs were cultured in the presence or absence of Colcemid. We used two different times of Colcemid treatment: standard Colcemid treatment (Colcemid-5 h) or long Colcemid treatment (Colcemid-17 h). Each Colcemid series had its own control series without Colcemid, thus ensuring that Colcemid was the only significant variable. A total of 771 sperm karyotypes from one normal donor was analyzed: 286 in the Colcemid-5 h series, 262 in the Colcemid-17 h series, and 223 in the two control series. In both Colcemid series there was a significant increase in the frequencies of hypohaploidy vs. hyperhaploidy (9.4% and 7.3% vs. 2.4% and 1.1%, for the Colcemid-5 h and Colcemid-17 h series, respectively), in contrast to those obtained in the control series, in which the frequencies of hypohaploidy and hyperhaploidy were close to the 1:1 relationship (4.9% vs. 4.0%) expected from nondisjunction. There was a significant increase in the frequency of structural abnormalities in both Colcemid series (16.1% and 14.5% for the Colcemid-5 h and Colcemid-17 h series, respectively) compared to the control series (6.3%). These results suggest that Colcemid significantly increases the frequency of hypohaploidy and unstable structural aberrations in human sperm.

Adolescent↗
PubMed1981

Increased frequencies of chromosomal abnormalities in families with a history of fetal wastage.

In twenty couples with a history of repeated fetal wastage, chromosomal abnormalities in cultured lymphocytes were analyzed with standard, G- and C-banding techniques. The analyses revealed five individuals with a variant chromosome #1 (1 qh+) and one individual with an extra small unidentifiable fragment or ring chromosome in about 50% of the cells. In the remaining 14 couples, an increased frequency of chromosomal breakage was found, compared to the frequencies in 11 couples with two children and no reported abortions. Eighteen out of 40 individuals (45%) in the families with fetal wastage were found to have cytogenetic abnormalities. None of the 22 controls showed such abnormalities.

Abortion, Habitual↗
PubMed1987

From oocyte to embryo: a model, deduced from in vitro fertilization, for natural selection against chromosome abnormalities.

A cytogenetical analysis was performed on 151 unfertilized oocytes, 22 fertilized eggs at the pronuclear stage, and 108 cleaved embryos obtained in the course of in vitro fertilization (IVF). Thirty-two per cent of unfertilized oocytes were abnormal, carrying nullisomies or disomies, mainly of D and G chromosomes, and a structural anomaly (Gq-) in one case. Fertilized eggs showed frequent asynchronism in the development of pronuclei and only 2 out of 8 karyotyped pronuclei were normal. Cleaved embryos were classified according to the number of pronuclei observed 17 hours after insemination. One per cent displayed a single pronucleus, and haploid chromosome complements were found in the corresponding cleaved embryos which were considered to be parthenotes. The rate of chromosome abnormalities of diploid eggs depended on their morphological aspect. Healthy cleaved embryos carried 12.5% of anomalies while this rate reached 37% in fragmented embryos (p less than 0.05). Lastly, 6% of fertilized eggs displayed three pronuclei or more. Only 41% of the corresponding embryos were triploid. Diploidy or diploidtriploid mosaicism were often encountered. This leads to a 21% rate of abnormalities in the preimplantation embryos. Parental karyotyping and HLA typing were carried out in a series of eight couples with in vitro idiopathic infertility or recurrent embryo degeneration in vitro. No abnormality was noted. According to these results, a model of natural selection of normal conceptuses is proposed.

Aneuploidy↗
PubMed2006

High incidence of chromosomal abnormalities in oocyte donors.

Oocyte donors are chosen among phenotypically normal and fertile women who are not expected to carry any chromosomal abnormality. A high incidence of balanced structural chromosomal rearrangements has been found within oocyte donors. This result raises the question of a possible bias in their recruitment with respect to their familial background and/or personal reproductive history.

Adult↗