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PubMed1983

Human chromosome analysis: methodology and applications.

This issue focuses on the rapidly developing field of human cytogenetics. The first article discusses the methodology used in the study of human chromosomes as well as its application in the diagnosis of chromosomal disorders. The second article discusses the application of chromosome analysis to the diagnosis and prognosis of hematologic malignancies, and the final article illustrates clues found on a peripheral blood smear that lead to the diagnosis of a chromosomal disorder.

Chromosome Aberrations↗
PubMed1984

Cephalothoracopagus syncephalus: a case report with previously unreported anatomical abnormalities and chromosomal analysis.

A case of cephalothoracopagus conjoined twins is presented. The abnormality was detected antenatally by the use of ultrasonography. A detailed anatomical description is given, including previously unreported abnormalities of the cerebrum and genito-urinary tract. Chromosomal analysis was also performed. This showed a pericentric inversion of one chromosome 9 in the fetus. Studies performed on the mother showed pericentric inversion of both chromosome 9s. A comparison of this case with previously reported cases in the literature is then given.

Abdomen↗
PubMed1989

Chromosome analysis of in situ breast cancer.

Eleven ductal carcinoma in situ (DCIS), 5 DCIS with microinvasion and 4 benign lesions have been investigated cytogenetically. Twelve of the 20 breast tumors (60%) had sufficient mitotic activity for chromosome analysis. All ductal carcinoma in situ had abnormal karyotypes, and clonal marker chromosomes could be identified in all tumors analyzed. None were cytogenetically normal. All but one of the 12 DCIS showed genetic heterogeneity. Tumor progression seems to be associated with loss of chromosomes.

Breast Neoplasms↗
PubMed2005

Chromosome analysis in childhood cancer survivors and their offspring--no evidence for radiotherapy-induced persistent genomic instability.

Suggestions that the induction of genomic instability could play a role in radiation-induced carcinogenesis and heritable disease prompted the investigation of chromosome instability in relation to radiotherapy for childhood cancer. Chromosome analysis of peripheral blood lymphocytes at their first in vitro division was undertaken on 25 adult survivors of childhood cancer treated with radiation, 26 partners who acted as the non-irradiated control group and 43 offspring. A statistically significant increase in the frequency of dicentrics in the cancer survivor group compared with the partner control group was attributed to the residual effect of past radiation therapy. However, chromatid aberrations plus chromosome gaps, the aberrations most associated with persistent instability, were not increased. Therefore, there was no evidence that irradiation of the bone marrow had resulted in instability being transmitted to descendant cells. Frequencies of all aberration categories were significantly lower in the offspring group, compared to the partner group, apart from dicentrics for which the decrease did not reach statistical significance. The lower frequencies in the offspring provide no indication of transmissible instability being passed through the germline to the somatic cells of the offspring. Thus, in this study, genomic instability was not associated with radiotherapy in those who had received such treatment, nor was it found to be a transgenerational radiation effect.

Adult↗
PubMed1983

Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy.

A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA-stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin-chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.

Amniotic Fluid↗
PubMed1985

Chromosomal analysis of bladder cancer: technical aspects.

Of 77 patients with bladder carcinoma, 99 tissue specimens--including tissues of patients with recurrent tumors taken after radiotherapy or cytostatics--were subjected to chromosomal analysis. In 42 specimens, recognizable metaphases could be obtained after conventional Giemsa staining and in a smaller number after C- and/or G-banding. All except one had abnormalities of the chromosomes. Short-term cultures for 24-48 hr in RPMI 1640 plus 15% fetal calf serum plus penicillin-streptomycin gave better results than a direct technique (30 min in 0.075 M KCl + 0.1 microgram colcemid/ml at 37 degrees C, followed by fixation). In low stage/grade tumors the number of recognizable metaphases obtained after short-term cultures is lower than in higher stage/grade tissue specimens.

Cells, Cultured↗
PubMed1990

Chromosome analysis of cryopreserved cells.

We describe a technique for freezing and thawing human leukemic cells for cytogenetic studies. We studied 64 harvests on 26 cryopreserved samples from 20 individuals. Chromosome quality was best in the samples from patients with myeloid disturbances. Successful chromosome studies of approximately 50% of the samples were accomplished. Cryopreservation of leukemic cells is not a substitute for fresh material because the method produces relatively few metaphases and mediocre chromosome spreading and banding. However, when rigid and appropriate research objectives are applied, chromosome analysis of cryopreserved leukemic cells can be a viable alternative to analysis of fresh cells.

Adolescent↗
PubMed1997

Chromosomal analysis in 894 induced abortuses from women of advanced maternal age in relation to gestational weeks and fetal sex ratio.

OBJECTIVE: To clarify the prenatal sex ratio, and types and frequencies of chromosome anomalies in relation to gestational weeks in women of advanced maternal age. METHODS: Chromosomal analysis was performed in 894 induced abortuses derived from elderly pregnant women 35 or more years of age. RESULTS: The embryonic sex ratio in the chromosomally normal (abnormal) gave a preponderance of females over males in lower gestational weeks [366/458 (63/73); 79.9 to 100 (86.3 to 100) in 4-10 weeks]; the reversal of dominancy in those from females to males occurred in the 11th gestational week [41/29(5/4); 141.4 to 100 (125.0 to 100) in 11-20 weeks]. The frequency of trisomy in females at 10 weeks of gestation was significantly high (7/28; 25%). CONCLUSIONS: This study showed that the existence of a difference of and a reversal of the sex ratio in gestational weeks. It was considered that there might be a lower viability of genetically handicapped males as compared to such females. However, the reversal of the sex ratio, such as that observed between 9th and 10th gestational weeks, might reflect events occurring after implantation.

Abortion, Induced↗
PubMed1979

Chromosome analysis in meningeal carcinomatosis.

A 50-year-old man with clinical signs of meningeal carcinomatosis is described in whom cerebrospinal fluid cells suspected of malignancy were found. A chromosome analysis confirmed malignancy and also indicated the origin of the primary tumor.

Adenocarcinoma↗
PubMed1986

Refined chromosome analysis as an independent prognostic indicator in de novo myelodysplastic syndromes.

In a study of 56 consecutive adult patients with de novo myelodysplastic syndromes (MDS), all cases were successfully analyzed with two refined chromosome banding techniques. Most patients (44 of 56, 79%) were found to have a chromosome defect. The majority of these patients had a recurrent loss of chromosomal material rather than a reciprocal translocation or inversion, as commonly found in acute leukemia. The three largest chromosomal categories found were associated with a wide range of survival. Twelve patients (21%) had normal chromosomes, a stable clinical course, and long survival (median follow-up time of 49 months, with all patients alive). Nine patients had in common a single chromosome defect resulting in either monosomy 7 or deletion 7q. They had a median survival of 12 months, and four died of acute nonlymphocytic leukemia (ANLL). Of 12 patients with complex defects, 11 had a complete or partial loss of a chromosome 5 and a complete or partial loss of the long arm of a chromosome 7 or 20. They had a poor median survival of four months, and six patients died of ANLL. Although the French-American-British (FAB) classification was also found to have some prognostic value, FAB subgroups were chromosomally heterogeneous and showed less dramatic differences in median survival than the larger chromosomal subgroups. We have shown, for the first time, that a refined chromosomal analysis is an independent prognostic indicator in de novo MDS and may be helpful in establishing therapeutic approaches in this difficult group of heterogeneous disorders.

Adult↗
PubMed2004

The peptide nucleic acids as probes for chromosomal analysis: application to human oocytes, polar bodies and preimplantation embryos.

Peptide nucleic acids (PNA) are synthetic DNA mimics based on an uncharged polyamide backbone, which hybridize with complementary DNA with high affinity and specificity. PNA have recently become recognized as efficient tools for in situ chromosomal identification. In the present study, this new approach has been tried on isolated human oocytes, polar bodies and blastomeres. Using centromeric PNA probes specific for chromosomes 1, 4, 9, 16, X and Y, we tested multicolour labelling PNA reaction on 27 oocytes and 23 blastomeres. Sequential PNA hybridization was performed on five oocytes and combined PNA and fluorescence in situ hybridization (FISH) reactions on two oocytes. Both the rates and the types of abnormalities observed are in agreement with results from previous FISH studies. This preliminary study indicates that PNA probes allow a reliable chromosomal analysis in isolated human oocytes and blastomeres and consequently might provide an interesting adjunct to FISH for diagnostic analysis.

Blastocyst↗
PubMed2000

Novel data set for retrospective biodosimetry using both conventional and FISH chromosome analysis after high accidental overexposure.

Blood samples of ten Chernobyl and one non-Chernobyl victims were analysed both by conventional cytogenetics and by fluorescence in situ hybridization (FISH) using a cocktail of chromosomes 2, 3 and 8. The analysed group comprised men acutely irradiated mainly in 1986 and aged 26-47 years at the time of first blood sampling. All of them displayed acute radiation syndrome of varying severity. Chromosome analysis of the earliest blood samples was carried out by conventional scoring of unstable aberrations with the number of metaphases analysed per individual ranging from 35 to 300. Estimated individual doses ranged from 0.85 to 9.8 G y. After a 10 year delay, i.e. in 1996, blood samples were analysed both by conventional scoring of unstable aberrations and by FISH measurements of stable ones. Usually about 500 metaphases per individual were scored. Estimated by the FISH-method individual translocation (tc + ti) frequencies ranged from 2.2 to 116.8 per 100 cells full genome equivalent. Based on three different published dicentric dose response, in vitro curves individual doses were calculated from the earliest dicentric frequencies. A dose response curve for truly persisting translocations (tc + ti) was estimated over the range 1-10 Gy.

Adult↗
PubMed1990

[Chromosome analysis of renal cell carcinoma].

Of 8 tumors surgically extirpated from 8 patients with renal cell carcinoma, 7 were successfully processed in short-term culture by collagenase method, and 130 metaphases were extracted from these 7 tumors and were subjected to chromosomal analysis according to the G banding technique. As for karyotype, 4, 2 and 1 cases were mainly diploid, hypodiploid and aneuploid, respectively. The highest incidence of chromosome aberration was marked by #3 chromosome (5 of 7 cases of which 4 and 1 showed monosomy as clonal aberration and trisomy as non-clonal aberration, respectively). The commonest gain of chromosome was noted for #7 trisomy (4 of 7 cases). Two cases had already had metastases at the time of surgery, each showing #7 trisomy. Marker chromosome was noted in 6 of 7 cases. Structural chromosome aberration had a lesser incidence compared with numerical aberration; only clonal aberrations were long-arm aberrations (2q+, 6q+) of #2 and #6 chromosomes. Short-arm aberrations (3p-, 8p-) of #3 and #8 chromosomes were noted in one case each. 3p deletion, which is reported to be predominant in the literature, was noted only in one case. This was observed in triploid cells. However, all of metaphases showing 2q+ and 6q+ had concomitant #3 monosomy, and excess portions of #2 and #6 chromosomes were in good agreement with the band pattern of #3 chromosomal long-arm. Therefore, translocation of 3q12-qter in #2 and #6 chromosomes is supposed to lead to 3p deletion. A similar mechanism seems to be involved in the formation of marker chromosomes, suggesting the involvement of deleted #3 chromosome in marker chromosomes.

Aged↗
PubMed1992

Methodologic study of direct preparation for chromosome analysis of human solid brain tumors.

Human malignant glioma grown in athymic nude mice (NHG-1) and three freshly resected human solid gliomas were used in the study of factors influencing the direct preparation (DP) for chromosome analysis of human solid tumors. The results showed that: 1) the length of time after the blood supply was obstructed was a major factor in reducing the success rate of DP, i.e., a 2-hour delay resulted in a significantly lowered metaphase number and after 4 hours almost no metaphases could be seen; 2) preserving tumor cells at 4 degrees C may prolong the time limit to about 4 hours; 3) culture medium (RPMI 1640 and Eagle MEM) and bovine calf serum concentration (0%, 10%, 20%, and 30%) did not influence the success rate significantly; 4) colchicine concentration (0.025 micrograms/mL, 0.05 micrograms/mL, 0.1 micrograms/mL) and time of treatment (30 min, 90 min, or 180 min) mainly affected the quality of chromosomes observed but had little effect on the quantity of metaphases that might be obtained. Based on these results, we had a success rate of more than 80% in 72 xenografts and 22 human brain tumors.

Animals↗
PubMedDate not supplied

[The retrospective cytogenetic dosimetry using the results of conventional chromosomal analysis in Chernobyl clean-up workers].

The paper presents the results of the cohortal biodosimetry carried out in 435 Chernobyl clean-up workers, who were surveyed with the conventional cytogenetic technique in terms from several days to 10 years after the end of their duties in the Chernobyl accident exclusive zone. An empirical model of the aberrant cell dynamics was utilized for the calculation of mean initial yields of dicentrics and centric rings in groups with different terms and duration of staying in the Chernobyl zone. Corresponding protracted irradiation doses estimated from aberration levels ranged from 79 to 670 mGy. The probabilistic distribution of the radiation doses was constructed by the applying the Bayesian analysis to initial individual chromosome exchange yields extrapolated to the exposure termination moment. This distribution was characterized by the mean dose about 460 mGy and maximum of probability density in the interval of 50-300 mGy. For the late somatic risk assessment in clean-up workers the probabilistic distribution of equivalentally-acute radiation doses was proposed; that had the mean value about 270 mGy, modal classes of 250-350 mGy and 99.8% of the probability density concentrated within the dose range from 0 to 1000 mGy.

Adult↗
PubMed1990

[Clinical cytogenetic studies on patients with cleft lip and/or cleft palate--2. Chromosome analysis of twins].

Development of DNA diagnosis on the monocular level for patients with cleft lip and/or palate may be expected in the near future. The necessary condition for this is to confirm the heredity, elucidate the mode of inheritance and decide on the regional mapping etc. The authors tried a chromosome analysis on a pair of monozygotic twins with cleft lip and palate by using high-resolution banding techniques (about 700 bands). However, chromosome aberration was not confirmed. Therefore, the relation between this congenital anomaly and the chromosome aberration could not be confirmed. In this paper the authors discussed about this problem.

Chromosome Aberrations↗
PubMed1998

Chromosomal analysis of early fetal losses in relation to transvaginal ultrasonographic detection of fetal heart motion after infertility.

OBJECTIVE: To evaluate the prognostic value of transvaginal ultrasound (TVUS) detection of fetal heart motion (FHM) in view of maternal age and chromosomal analysis of spontaneously aborted fetal tissue. DESIGN: A 3-year retrospective, descriptive study. SETTING: Two medical center-based infertility-care facilities. PATIENT(S): 336 pregnancies were initiated by intrauterine insemination or embryo transfer for women of reproductive age who were seeking infertility treatment. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): beta hCG levels measured > 40 mIU/mL at 4-5 weeks' gestation and were followed by an initial TVUS at 5-8 weeks. Of these pregnancies, 52 ended in a first trimester loss. Twenty were defined by failure to detect FHM by 7 weeks' gestation (Group I), and 32 were marked by the loss of prior FHM at a mean of 2.6 weeks later (Group II). Fetal tissue was removed by dilatation and suction curettage. Cytogenetic studies were performed from short-term cultures of dissected chorionic villi and/or sac. RESULT(S): Chromosomal aberrations were found in 75.0% of abortuses in Group I and 65.6% in Group II. Different types of chromosomal abnormalities were present in each these groups. The maternal age-related trisomies which can progress to term (i.e., 13, 18, 21) were associated with early TVUS detection of FHM. The frequency of chromosomal abnormalities varied significantly with maternal age, with normal fetal karyotypes in 7 of 11 (63.6%) women < 35 years, but only in 9 of 41 (22.0%) women > or = 35 years despite the detection of FHM in 24 of 41 (58.5%) of these older women. Detection of FHM was associated with pregnancies continuing beyond the first trimester in 284 of 316 (90.0%) overall, but differed significantly with age (166 of 174 [95.4%] women < 35 years vs. 118 of 142 [83.1%] women > or = 35 years). CONCLUSION(S): Although the occurrence of chromosomal abnormalities in spontaneous demises did not differ according to TVUS detection of FHM, the types of aberrations were distributed differently. Since maternal age remains a significant factor in early fetal loss, TVUS detection of FHM should not be as reassuring for women > or = 35 years as for younger women.

Abortion, Spontaneous↗