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PubMed2004

Association of cytogenetic abnormalities with detection of BCR-ABL fusion transcripts in children with T-lineage lymphoproliferative diseases (T-ALL and T-NHL).

Detection of Philadelphia chromosome (Ph) in childhood T-lineage acute lymphoproliferative disorders is a rare event. Additional cytogenetic abnormalities are particularly uncommon in ALL. We here report two cases with T lineage acute lymphoproliferative disorders (T-ALL and T-NHL) presenting with both cytogenetic alterations and BCR-ABL fusion transcripts, associated with an aggressive presentation and a poor outcome. We point out firstly on the cytogenetic aberrations, supporting the hypothesis of multi-lineage involvement of ALL expressing Ph chromosome; secondly, on the persistence of T-cell leukemic clone detected by minimal residual disease (MRD) analysis, despite of the early disappearance of BCR-ABL fusion transcript.

Adolescent↗

PubMed1988

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester.

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2.0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2.3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.

Biopsy, Needle↗

PubMed1991

Routine cytogenetic prenatal diagnosis using dynamic banding (RBG-GBG): a highly reproducible method for amniocytes, fetal cord blood, and chorionic villus investigations.

Dynamic banding (RBG-GBG) using pulse 5-bromodeoxyuridine (5-BrdU) incorporation during part of the last S-phase before harvesting has been used in prenatal investigations. This method has already been routinely applied in 1344 cytogenetic investigations. GBG and RBG bandings produced almost identical patterns to classical G- and R-banding methods except for heterochromatic portions and some euchromatic segments. Nevertheless, these discordances may be somewhat helpful for cytogenetic diagnosis (i.e., X numerical abnormalities). The results showed particularly good contrast and staining; 5-BrdU incorporation did not prevent additional staining. Likewise, previous RBG or GBG disclosure allowed further chromosomal identification with C-banding or nucleolar organizer staining. Simplicity and reproducibility were very helpful in cases with a low mitotic index. 5-BrdU had no significant effect on in-vitro damage because only 0.31 percent of cells were affected; so, we believe that dynamic banding should be used more extensively in cytogenetic investigations. Moreover, the staining and contrast qualities were very suitable for automatic methods of analysis now in use: i.e., metaphase finding and computer-assisted karyogram creation.

Amniocentesis↗

PubMed1994

Cytogenetic abnormalities among perinatal deaths demonstrating a single umbilical artery.

The presence of a single umbilical artery is associated with fetal congenital malformations and cytogenetic abnormalities. The incidence of chromosomal abnormalities in perinatal deaths complicated by a single umbilical artery is unknown. We studied the proportion of cytogenetic abnormalities associated with a single umbilical artery among perinatal deaths undergoing autopsy. Of 1078 autopsies, 42 (3.9 per cent) were identified with a single umbilical artery. Chromosome analysis was attempted in 21 of the 42 cases (50 per cent). There were 16 successful chromosome analyses, of which three (18.75 per cent) were abnormal. All the chromosomally abnormal fetuses had major congenital malformations. These data suggest that in a perinatal death, the presence of a single umbilical artery does not clinically alter the a priori risk of cytogenetic abnormalities.

Chromosome Aberrations↗

PubMed1994

The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods.

Cytogenetic analysis was performed in 4860 chorionic villus samples by means of both direct preparation and long-term culture. The results of the analysis were compared with a classification including all theoretical types of combinations between the chromosomal constitution of the cytotrophoblast, extraembryonal mesoderm, and fetus, with the aim of evaluating the cytogenetic variability along the trophoblast-embryo axis. Eighteen of 29 possible combinations were found demonstrating a considerable heterogeneity. A mosaic conceptus was found in 1.5 per cent of cases, with generalized mosaicisms and confined mosaicisms in 0.2 and 1.3 per cent, respectively. Cytogenetic variability along the trophoblast-embryo axis was found in 1.42 per cent of cases. Results possibly leading to diagnostic errors (false-positive and false-negative results) were found in only 1.38 per cent. False-positive results of direct preparation were the most commonly observed discrepancy (0.8 per cent), while the incidence of false-positive results of the culture method and of both methods was 0.31 and 0.16 per cent respectively. The incidence of false-negative results was 0.1 per cent, with false-negative results of direct preparation 0.08 per cent and false-negative results of both methods 0.02 per cent. False-negative results of the culture method were not found. Our data confirm the high diagnostic accuracy of chorionic villus sampling and the utility of the combined use of the two methods in minimizing diagnostic errors and in reducing the need for follow-up amniocentesis.

Chorionic Villi Sampling↗

PubMed1995

Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET).

We studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF-ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal age) and time of sampling. A total of 252 IVF-ET fetuses were cytogenetically analysed by either chorionic villus sampling (CVS; n = 80) or amniocentesis (n = 172). Eleven chromosome abnormalities were found in the CVS group (13.8 per cent); among them, a 45,X/46,X,dic(Y)(q11)/46,X,del(Y)(q11) mosaic that was found in an IVF pregnancy established by intracytoplasmic sperm injection (ICSI), four cases of trisomy 21, and three cases of trisomy 7 confined to the placenta. The results indicate a statistically significant three- to five-fold increase in both confined placental abnormalities (P < 0.008) and true fetal chromosome anomalies (P < 0.04). In the amniocentesis group, identical rates (1.7 per cent) of chromosome abnormalities were found in the IVF-ET and control groups. It is concluded that late first trimester, but not early second trimester, IVF-ET pregnancies are characterized by an increased frequency of cytogenetic abnormalities found at prenatal diagnosis.

Adult↗

PubMed2004

Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4.

OBJECTIVES: To present the clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4. CASE: An amniocentesis was performed at 21 weeks' gestation because of maternal anxiety. Cytogenetic analysis revealed mosaicism for trisomy 4, 47,XX,+4[4]/46,XX[16]. Level II ultrasound demonstrated tetralogy of Fallot. Repeated amniocentesis at 23 weeks' gestation revealed 47,XX,+4[4]/46,XX[19]. The pregnancy was terminated. Phenotypic findings included tetralogy of Fallot, hypertelorism, micrognathia, abnormal ears, duplicated phalanges of the left thumb, clinodactyly, and overlapping of the toes. The karyotype of the cord blood was 46,XX. Cytogenetic analyses of the multiple tissue samplings showed a karyotype of 47,XX,+4 in 40/40 cells of the amniotic membrane (amnion), and 47,XX,+4/46,XX with various levels of trisomy 4 in the cells of the liver, lungs, placenta, skin, and umbilical cord. The levels of trisomy 4 were 11/40 in the liver, 8/40 in the lungs, 31/40 in the placenta, 9/40 in the skin, and 8/40 in the umbilical cord. METHOD: The parental origin and meiotic origin of trisomy 4 were determined by examining the amniotic membrane using quantitative fluorescent polymerase chain reaction assays with polymorphic markers specific for chromosome 4. The result was consistent with a paternal meiosis I nondisjunction error. The cord blood showed a biparental inheritance. An extra paternal heterozygous allele with partial dosage increase was noted in other fetal and extraembryonic tissues studied. CONCLUSION: A diagnosis of trisomy 4 mosaicism in amniocytes indicates an increased risk for fetal abnormalities. Associated abnormal findings include congenital heart defects and anomalies of the digits and thumb. A confirmatory placental sampling may be helpful, whereas a fetal blood sampling is of a very limited value. A postnatal amnion sampling may provide additional clues to the fetal involvement of trisomy 4.

Abortion, Induced↗

PubMed2004

Prenatal diagnosis of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular studies with multiplex STR analysis.

OBJECTIVES: To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS: A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization revealed the existence of a Y centromere on the marker chromosome. Analysis with six pairs of short tandem repeat markers showed that the genomic DNA extracted from the uncultured amniotic fluid cells contained a deletion of Yq11.1-Yq11.2. Spermatogenesis loci of the Y chromosome were studied using four sets of multiplex PCR. The proximal two markers DYS271 and KALY were present and the other 16 distal markers were deleted. No deletion was noted in the Y chromosome of the father. RESULTS: Cytogenetic and molecular analyses revealed deletions of AZFb, d, and c regions on Yq11.2-Yqter in the fetal Y chromosome. Postmortem examination of the fetus showed a grossly normal male fetus with normal external genitalia and testes. CONCLUSION: The present report demonstrates that molecular analysis using polymorphic microsatellite markers and multiplex PCR is a useful complement to cytogenetic methods for the identification and the characterization of Y-chromosomal deletions.

Adult↗

PubMed1984

Cytogenetic studies in dogs after total body irradiation and allogeneic transfusion with cryopreserved blood mononuclear cells: observations in long-term chimeras.

Cytogenetic studies were performed on two dog groups after total body irradiation and allogeneic transfusion with cryopreserved blood mononuclear cells. The first group of dogs was transfused with unseparated leukocytes and suffered from graft-versus-host disease (GvHD). Cytogenetic studies demonstrated only cells of donor origin in all dogs of this group. The second group of animals was transfused with fraction 2 of a discontinuous albumin gradient. The dogs of this group did not develop GvHD, and the cytogenetic studies showed the presence of a mosaic of cells from donor and recipient origin in all of them. These results suggest that the GvHD may suppress autochthonous regeneration.

Animals↗

PubMed1987

Cyclophosphamide-induced cytogenetic effects in mouse bone marrow and spleen cells in in vivo and in vivo/in vitro assays.

Sister chromatid exchange (SCE) and chromosomal aberration studies have been used to monitor human populations for genotoxic exposure to chemical substances. These monitoring techniques involve collection of blood and/or bone marrow from the exposed subjects and culturing cells for one or two cell cycles with various treatments in culture. The results obtained from such in vivo/in vitro studies may lead to an over- or underestimation of the damage that could occur in vivo. In the present study, which uses a mouse model, the in vivo/in vitro cytogenetic assays (SCEs and chromosomal aberrations) have been compared with similar in vivo systems in bone marrow and spleen cells treated with various doses of cyclophosphamide (CPA). The results indicate a significant difference in CPA-induced cytogenetic endpoints between in vivo and in vivo/in vitro conditions in both organs. However, linear relationships were found between CPA dose and cytogenetic end point analyzed under both conditions. Based on these results it appears that the in vivo/in vitro assay is a useful technique for indicating potential in vivo damage of chemicals.

Animals↗

PubMed1978

Teratogenic and cytogenetic effects of some plant-derived antitumor agents (vincristine, colchicine, maytansine, VP-16-213 and VM-26) in mice.

The teratogenic effects of three new plant-derived antitumor agents, maytansine, VP-16-213 and VM-26, were compared to the effects of vincristine and colchicine in pregnant Swiss albino mice that received a single ip injection of drug on day 6, 7 or 8 of gestation. Cytogenetic studies were also performed using maternal bone marrow and embryos obtained 48 hours after injection of maytansine, vincristine, VP-16-213, VM-26 and colchicine on day 6, 7 or 8 of gestation. A close correlation between teratogenic and cytogenetic effects was not noted among the compounds tested. Vincristine had greater embryotoxic and teratogenic activity than maytansine at equimolar doses (0.36 mu moles/kg), with the peak effects appearing after injection on day 7 of gestation. Colchicine, VP-16-213 and VM-26 were comparatively less potent than maytansine and vincristine, since doses of 2.5 mu moles/kg (colchicine and VP-16-213) and 1.5 mu moles/kg (VM-26) were required to elicit embryotoxic effects. At their teratogenic doses, all compounds induced various cranial abnormalities including exencephaly, hydrocephalus, anophthalmia and microtia, as well as major skeletal malformations. The teratogenic dose of vincristine is comparable to its effective antitumor dose in transplantable rodent tumor systems; in contrast, the teratogenic dose of maytansine in approximately 10-fold higher than its antitumor dose. Of the compounds studied, VP-16-213 and VM-26 exerted the most consistent cytogenetic effects in embryonic tissue. Alarge proportion of the structural chromosome aberrations induced in embryonic cells by VM-26 were stable and are most likely capable of surviving at least one cell division.

Abnormalities, Drug-Induced↗

PubMed1999

Integration of cytogenetic with recombinational and physical maps of mouse chromosome 16.

To link the cytogenetic map for mouse chromosome 16 (Chr 16) to the more detailed recombinational and physical maps, multiple probes were mapped by fluorescence in situ hybridization (FISH). Sixteen large insert clones (YACs, BACs, and PACs) containing markers that have been assigned to the Chr 16 recombinational map were localized to a cytogenetic band or subband by high-resolution FISH. This linkage of the cytogenetic and recombinational maps provides a useful tool for assigning new probe locations and for defining breakpoints in mice with chromosomal rearrangements. A direct application of these probes is demonstrated by identifying mice trisomic for distal Chr 16 using FISH analysis of interphase nuclei.

Animals↗

PubMed2001

A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders.

Mapping of the human ribosomal protein (RP) genes has been completed, and all 80 different genes were placed on a cytogenetic map of the human genome. Because of the existence of processed pseudogenes, the localization of the RP genes was complicated, and five genes had remained to be mapped. Here we developed a novel strategy to identify sequence-tagged sites (STSs) at introns of the RP genes, and we localized RPL14, RPL22, RPL35, RPL36, and RPL39 within the chromosomes by radiation hybrid mapping. Unlike the case of eubacteria or archaebacteria, human RP genes are widely scattered about the genome. Together with the previous results, both sex chromosomes and 20 autosomes (all but chromosomes 7 and 21) were found to carry one or more RP genes. To explore the possible involvement of RP genes in human disorders, all 80 genes were assigned to cytogenetic bands according to a published cytogenetic BAC-STS map of the human genome. We compared the assigned positions with candidate regions for Mendelian disorders and found certain genes that might be involved in particular human disorders.

Animals↗

PubMed1988

The mechanism of cytogenetic genotoxicity of exogenous glutathione in V-79 cells in vitro--implication of hydrogen peroxide and general traits of oxidative chromosome damage.

The mechanism of cytogenetic genotoxicity (clastogenicity, induction, cell cycle delay) of 10(-3) M glutathione in V79-E cells, as described by Thust and Bach (1985), was studied in detail by using different treatment conditions. It was found that 1-cystine is the essential cofactor in the incubation system. Catalase, but not superoxide dismutase, abolished the genotoxic effect, and the iron chelator desferoxamine, as well as the hydroxyl radical scavenger mannitol, diminished the activity. It is suggested that glutathione, in combination with V79-E cells and cystine, forms a hydrogen peroxide-generating system which provokes the adverse effects. Glutathione as well as 1-cysteine and 2-mercaptopropionylglycine, which were checked for comparison, show a "paradoxic genotoxicity," i.e., at 10(-2) M the effects return almost to the level of controls. Concentration dependence and other criteria of cytogenetic genotoxicity observed with glutathione show obvious similarities to those of other oxidatively acting agents and reveal striking differences to the cytogenetic effects of "typical" genotoxins.

Animals↗

PubMed1993

Molecular cytogenetic study of patients with Pallister-Killian syndrome.

The Pallister-Killian syndrome (PKS) is characterized by tissue limited chromosomal mosaicism, i.e. the presence of a supernumerary metacentric chromosome [i(12p)] often confined to skin fibroblasts while the karyotype of cultured lymphocytes is normal. In the present study, chromosome painting by chromosomal in situ suppression (CISS) hybridization and interphase cytogenetic procedures employing biotinylated or digoxigenin labelled probes was carried out. These probes comprised a chromosome 12 specific library (LA 12NS01) and chromosome 12 centromere specific alpha-satellite (pSP12-1). They were used to analyse and quantify the presence of i(12p) in lymphocytes, granulocytes/monocytes, skin fibroblasts and buccal mucosal cells from five patients and one aborted fetus with PKS, and ten normal donors. CISS hybridization on mitotic skin fibroblasts reliably indicated the presence of i(12p) cells, even when metaphases of poor quality were included in the analysis. Two of the five patients showed i(12p) in a small proportion (< or = 0.5%) of the cultured lymphocytes too. The interphase cytogenetics procedure did not reveal the isochromosome in lymphocytes or granulocytes/monocytes in any of the patients. Two of the six patients had a twofold increase in the number of buccal mucosal cells with three hybridization signals over control values. However, for mucosal cells, methodological improvements are required. For cytogenetic diagnosis of PKS, cultured fibroblasts subjected to chromosome painting by CISS hybridization with a chromosome 12 specific library probe are recommended.

Adolescent↗

PubMed1986

Cytogenetic analysis of chorionic villi: a technical assessment.

Eighty-five samples of chorionic villi from women undergoing prenatal diagnosis at 8 to 12 weeks' gestation were subjected to cytogenetic analysis. Samples were prepared by a direct technique that permits limited analysis within two hours and by a short-term culture technique that permits detailed structural analysis within one week. An adequate number of cell divisions for cytogenetic analysis was obtained from 96% of living fetuses. Using both the direct technique and short-term culture, satisfactory banded chromosomal preparations were made in 93% of cases. Eleven of 12 pregnancies (92%) shown by ultrasound to be dead shortly before sampling, had cytogenetic abnormalities. Further studies are needed to develop banding definition equivalent to that available on cultured amniocytes.

Adult↗

PubMed1977

Clinical and cytogenetic observations during a six-year period in an adult with Fanconi's anaemia.

A male adult patient suffering from Fanconi's anemia is described who was diagnosed 5 years before the onset of clinical symptoms by cytogenetic findings of chromosomeinstability in a lymphocyte culture. Repeated clinical, haematological and biochemical investigations of the untreated patient have been made during the observation period of six years. In the same period of time cytogenetic studies have been carried out which show no correlation in results compared with the clinical or physical findings. Four well defined lymphocyte clones have been discovered. The patient is still under observation of the clinic and the cytogenetic department.

Adult↗

PubMed1996

Clinical implications of cytogenetic classification in adult acute lymphoblastic leukaemia patients.

Cytogenetic analysis performed on pretreated unstimulated, bone marrow/peripheral blood samples of 46 adult patients with acute lymphoblastic leukaemia (ALL) showed sufficient metaphases in 39 patients and insufficient metaphases in 7 patients. G-banded karyotype analysis of these 39 patients revealed non-random clonal chromosome abnormalities in 31 patients and apparently normal karyotypes in 8 patients. Numerical abnormalities involving chromosome trisomies and structural abnormalities involving different types of chromosomal translocations and deletions were encountered in varying percentages. These patients were grouped into various cytogenetic subsets on the basis of their karyotype pattern and followed-up to evaluate their prognosis. Patients with apparently normal karyotypes showed good prognosis and those with 6q- showed intermediate prognosis. But all other patients with hyperdiploid, pseudodiploid and hypodiploid karyotypes were associated with poor prognosis. Cytogenetic classification of ALL patients is thus of clinical importance, as it helps the early identification of clinically important prognostic groups.

Adolescent↗