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PubMed2004

Analysis of chromosomal abnormalities in testicular and epididymal spermatozoa from azoospermic ICSI patients by fluorescence in-situ hybridization.

BACKGROUND: An increased incidence of numerical chromosomal abnormalities has been reported in the ejaculated spermatozoa of infertile patients. However, there are few cytogenetic studies of testicular and epididymal spermatozoa, and their results are still controversial. METHODS: Fluorescence in-situ hybridization (FISH) analysis of chromosomes 13, 18, 21, X and Y was performed on seven testicular samples and two epididymal samples from patients with obstructive azoospermia (OA), and on 13 testicular samples from patients with non-obstructive azoospermia (NOA). Five ejaculated sperm samples from normozoospermic fertile donors were evaluated as a control group. RESULTS: Both epididymal sperm samples showed normal FISH results for the parameters analysed when compared with those of the control group. FISH results were abnormal in 29% (two of seven) of testicular samples from OA patients and in 54% (seven of 13) of those from NOA patients, although this difference was not statistically significant. Testicular samples from OA patients showed a significant increase of disomy for sex chromosomes (P<0.01), whereas NOA patients displayed significantly higher rates of diploidy (P<0.0001) and disomy for chromosomes 13 (P<0.0001), 21 (P<0.001) and sex chromosomes (P<0.0001) than the control group. CONCLUSIONS: Testicular spermatozoa from azoospermic patients present increased rates of chromosomal abnormalities, mainly of the sex chromosomes, which are particularly high in NOA patients.

Adult↗
PubMed1996

2q-, a non-random chromosomal abnormality in human non-small-cell lung cancer.

Many cytogenetic studies have been carried out on human lung cancer. However the chromosomal alterations in human lung cancers are often complex, making it difficult to identify some abnormal chromosomes by routine cytogenetic studies. Using FISH (fluorescence in situ hybridization), we studied the alterations of chromosome 2, 3, and 17 in four human bronchial epithelial cell lines, two human non-small-cell lung cancer (NSCLC) cell lines, and 12 primary NSCLC specimens. 2q- was found in three out of four human bronchial epithelial cell lines, two NSCLC cell lines, and three out of seven primary NSCLC specimens tested. 3p- was noted in five cases of twelve primary NSCLC patients examined. 3p- was the first cytogenetic discovery and the most prominent abnormality in lung cancer. 2q- has rarely been reported in human lung cancer but loss of heterozygosity by RFLP analysis for 2q had been reported in human NSCLC. Our results indicate that 2q- was also a non-random chromosomal abnormality in the early stage of the development of human NSCLC. There would be one or more putative tumor suppressor gene(s) on the long arm of chromosome 2. Loss of the gene(s) presumably contributes to the carcinogenesis of human non-small-cell lung cancer.

Adult↗
PubMed1983

9-beta-D-arabinofuranosyladenine increases the frequency of X-ray induced chromosome abnormalities in mammalian cells.

Treatment of X-irradiated stationary Ehrlich ascites tumour cells with the DNA synthesis inhibitor beta-ara A (120 mumol/l, 30 min before and for 7 hours after irradiation) is shown to lead to a large increase in the incidence of anaphase chromosome abnormalities (anaphase bridges and fragments) at the first mitosis following irradiation. This increase is similar to the increase in cell killing observed for this cell line when treated with beta-ara A under the same conditions (Iliakis 1980). The results suggest that the increased frequency of chromosome abnormalities caused by beta-ara A may result not only from the inhibition of DNA double strand break repair, leading to additional unrepaired d.s.b. (Bryant and Blöcher 1982) and chromosome deletions, but also from an increase in the frequency of misrepair of d.s.b. leading to exchange aberrations.

Anaphase↗
PubMed1990

Chromosomal abnormality limited to T4 lymphocytes in a patient with T-cell chronic lymphocytic leukaemia.

Cytogenetic, immunologic and DNA studies were performed on a patient with the T-cell type of chronic lymphocytic leukaemia. Standard G-banding karyotype analysis revealed clonal chromosome abnormalities with the karyotype 42-44,XY,-11,-12,-13,-16,-21,-22,i(8q),inv(14) (q11q32), t(15;?)(p11;?), +4-6mar/43-44,X,t(Y;14)(p11;q11),-11,-12, -13,-21,-22,i(6p),i(8q),inv(14)(q11q32),t(15;?)(q11;?), +1-3mar. MAC (morphology, antibody, chromosomes) methodology, which allows the immunophenotyping of mitotic cells, showed that the chromosome abnormalities were restricted to CD4-positive helper/inducer T lymphocytes and that CD8 suppressor/cytotoxic T cells and B lymphocytes possessed a normal karyotype. The results also indicate that the proportion of abnormal metaphases and the overall mitotic activity after 3.5 days of stimulation in vitro were highest when PHA and TPA were used as mitogens. When the culture period in the presence of PHA + IL-2 was extended, the proportion of the abnormal cell population decreased in direct relation to the length of the culture period, ranging from 100% at 3.5 d to 0% at 31 d after stimulation. Southern blotting analysis revealed rearrangements of both the immunoglobulin heavy chain gene and the beta T-cell receptor gene.

Aged↗
PubMed1996

Clonal chromosome abnormalities in Fanconi anemia.

Fanconi anemia (FA) belongs to the chromosomal instability syndromes and frequently evolves toward hematopoietic malignancy. While the recent isolation of one of the genes of FA allows to view to gene therapy, the best treatment is currently bone marrow transplantation. In this review, the data on clonal chromosome abnormalities of FA patients are presented and their significance discussed in the context of the disease.

Child↗
PubMed1990

High incidence of 17p13 chromosomal abnormalities in malignant histiocytosis.

Cytogenetic analyses of three patients during autopsy who had a pathologic diagnosis of malignant histiocytosis and of one patient who was strongly suspected to have malignant histiocytosis because of her clinical and hematologic findings were done. All three patients studied with bone marrow specimens showed polyploidy (3.4-20%). Two of three patients with chromosomal abnormalities showed 17p+ markers with a breakpoint at 17p13. Seven of 22 previously reported malignant histiocytosis patients (32%) with descriptions of detailed whole karyotypes have the 17p+ markers, including two of the authors' patients. Five of seven patients with 17p+ involved 17p13. Although breakpoints at the 17p+ in the remaining two were not described, their karyotypes were shown to possibly involve 17p13. The high incidence of this abnormality is not considered accidental, and this breakpoint is not usual in many other neoplastic disorders. These facts may indicate that 17p13 chromosome abnormality is a specific change of malignant histiocytosis.

Adolescent↗
PubMed1976

[New chromosome abnormality in chronic myeloid leukemia].

A case of chronic myelogenous leukemia with myelofibrosis and failure to respond to busulfan therapy has been reported. An abnormal clone with a rearrangement of four chromosomes, 46, XX, t(1;9) (q21; q24), t(6;22) (q26;q11) was observed. The possible significance of these chromosome abnormalities which are different from the t(9;22) translocation in C.M.L. is discussed.

Bone Marrow↗
PubMed1983

Chromosome abnormalities in human embryos after in vitro fertilization.

In vitro fertilization and embryo transfer is now an established treatment for certain forms of human infertility. High success rates have been reported following oocyte recovery and fertilization in vitro, the only major remaining difficulty being the high failure rate (80%) of implantation after replacement of the embryo into the mother. One possible reason for this failure of implantation is that some embryos may carry a lethal chromosome abnormality which does not allow development beyond the preimplantation stage. The need for information on the chromosomal status of early embryos fertilized and developed in vitro is recognized but two reported attempts to examine them have met with technical problems. Here we describe a method for examining chromosomes in 8-cell human embryos. Although we have made complete chromosome analyses for only three oocytes, our findings are surprising in that two of the three embryos were chromosomally abnormal. Data on the DNA content of the nuclei in a further eight cases showed that approximately 20% overall may be haploid.

Age Factors↗
PubMed1992

Detection of numerical chromosomal abnormalities in malignant cells on body fluids by fluorescence in situ hybridization of interphase cell nuclei with chromosome-specific probes.

To detect numerical chromosomal abnormalities (NCA) in malignant cells on body fluids, Fluorescence in situ hybridization (FISH) technique was tested in clinical specimens from patients with metastatic disease. Directly labeled DNA probes specific for chromosomes 8, 12, X, and Y (Imagenetics, Naperville, IL) were used for in situ hybridization to interphase cell nuclei. Fifteen body fluids (BF) from various sites were studied. Based initially on the Papanicolaou-stained slides, there were seven malignant and eight benign samples. Blind analysis (200 cells/sample) showed that all benign samples had a normal number of chromosomes, whereas six of seven malignant samples showed different NCA comprising 5-60% of the cell population ranging from three to 10 chromosome signals per cell. We conclude that interphase cytogenetic cell analysis of BF by FISH is: (1) feasible and gives superior signals for detection of NCA, (2) helpful in detecting malignant cells, (3) relatively simple with a turnaround time of less than 24 hr. This method may have diagnostic and prognostic application in the study of the biologic behavior of malignant neoplasms.

Body Fluids↗
PubMed1999

Correlation of chromosome abnormalities with presence or absence of WT1 deletions/mutations in Wilms tumor.

Of 40 Wilms tumors with chromosome abnormalities, 6 were hypodiploid, 10 were pseudodiploid, 7 were hyperdiploid with 47 to 49 chromosomes, and 17 were hyperdiploid with 50 or more chromosomes, mostly including +12. WT1 deletions/mutations were found in one hypodiploid, eight pseudodiploid, and one hyperdiploid (47-49 chromosomes) tumor, but in none of the hyperdiploid (> or =50 chromosomes) tumors. Of the 10 tumors with WT1 abnormalities, 6 had a homozygous WT1 deletion, 1 had a nonsense WT1 mutation and loss of heterozygosity at 11p, 1 had an intragenic hemizygous WT1 deletion without detectable WT1 mutation, and 2, which occurred in Wilms tumor-aniridia-genitourinary abnormalities-mental retardation syndrome patients, had a hemizygous deletion and a missense or frameshift mutation of WT1. Six of the nine tumors with homozygous or hemizygous WT1 deletions had chromosome aberrations involving chromosome band 11p13 in one of the two chromosomes 11. While one hypodiploid and one pseudodiploid patient died of the disease, and one hyperdiploid (47-49 chromosomes) patient was alive in nonremission, all hyperdiploid (> or =50 chromosomes) patients had no evidence of disease at the last follow-up. Our data show that chromosome aberrations are closely correlated to WT1 abnormalities and suggest that hyperdiploid (> or =50 chromosomes) Wilms tumors may be characterized by the absence of WT1 abnormalities and possibly also by a favorable prognosis.

Aneuploidy↗
PubMed2001

Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome.

BACKGROUND: An increased incidence of chromosome abnormalities has been reported in sperm samples of many infertile men by fluorescence in-situ hybridization (FISH). METHODS: Sperm aneuploidy and diploidy rates for chromosomes 13, 18, 21, X and Y were evaluated in 63 patients with normal karyotypes using dual and triple-colour FISH techniques. Indications for sperm FISH analysis were: recurrent miscarriages of unknown aetiology (RM, n = 40), repeated implantation failure after intracytoplasmic sperm injection (ICSI) (IF, n = 19), previous Down's syndrome pregnancies (n = 3), and meiotic abnormalities (MA, n = 1). Nine healthy normozoospermic donors were also evaluated as a control group. RESULTS: A significant increase in the incidence of sex chromosome disomies was found in the RM, IF and MA groups. Oligoasthenoteratozoospermic patients (n = 21) showed significantly higher rates of diploidy and disomies for sex chromosomes and chromosomes 18 and 21 than normozoospermic patients (n = 14). Thirty-one patients with normal and seven with abnormal FISH results had undergone several ICSI treatments (108 and 23 cycles respectively). Couples with abnormal sperm FISH results showed decreased pregnancy and implantation rates and increased miscarriage rates. CONCLUSIONS: Patients with a clinical background of recurrent miscarriages of unknown aetiology or implantation failure after ICSI are at risk of showing sperm chromosomal abnormalities, the incidence of which is higher in oligoasthenoteratozoospermic patients.

Abortion, Habitual↗
PubMed2005

Characterization of quantitative chromosomal abnormalities in renal cell carcinomas by interphase four-color fluorescence in situ hybridization.

Renal cell carcinomas (RCC) in adults are histologically heterogeneous solid tumors with specific chromosomal abnormality patterns included in the World Health Organization (WHO) classification. To overcome some of the drawbacks of cytogenetic and comparative genomic hybridization (CGH) analyses, we designed a first-generation cytogenetic diagnostic test using four-color fluorescence in situ hybridization (FISH) on interphase nuclei. We selected 51 bacterial artificial chromosome and P1-derived artificial chromosome clones covering 17 chromosomal regions involved in the abnormalities of the adult RCC histologic subtypes. An initial set of probes allowed the identification of clear-cell RCC, papillary RCC, and other RCC on a single slide. A second test allowed the detection of additional chromosomal abnormalities or aberrations specific to chromophobic RCC and oncocytomas. We tested 25 cases of RCC, and the results were in agreement with those of cytogenetic techniques and/or CGH methods. The techniques appeared to be very sensitive, because small tumoral cell clones that were undetected by other cytogenetic methods were identified with this method. It was concluded that the multicolor FISH test was specific and sensitive, easy to perform, and could be part of the investigation process in RCC.

Adult↗
PubMed1982

Recent advances in detecting human chromosomal abnormalities by various banding techniques.

The recent advent of banding techniques has led to the precise identification of human chromosomal abnormalities. With these techniques, the exact breakpoints in broken chromosomes are usually localized, and a phenotype-genotype correlation has been established at a very refined level for abnormalities on several chromosomes. Additionally, several so-called "new syndromes" have been recognized on the basis of cytogenetic findings. Consistent chromosomal findings have been reported in different types of neoplasia, and the prenatal diagnosis of several common cytogenetic disorders can be made through amniocentesis. The recent development of high-resolution chromosome mapping will have a dramatic impact on clinical medicine.

Chromosome Aberrations↗
PubMed2001

Total alpha-fetoprotein and Lens culinaris agglutinin-reactive alpha-fetoprotein in fetal chromosomal abnormalities.

OBJECTIVE: To examine the differences in multiples of the median (MoM) of total alpha-fetoprotein, and the proportion of Lens culinaris agglutinin reactive alpha-fetoprotein (% alpha-fetoprotein-L2 + L3) in the maternal serum and amniotic fluid of pregnant women whose fetuses were diagnosed with autosomal or sex chromosomal abnormalities. DESIGN: Prospective consecutive series. SETTING: University hospital. SAMPLE: Maternal sera and amniotic fluids from 46 pregnant women with trisomy 21 fetuses, 10 pregnant women with trisomy 18 fetuses, one pregnant woman with a trisomy 13 fetus, six pregnant women with fetal sex chromosomal abnormalities, and 100 pregnant women for whom the fetal karyotype was diagnosed as normal following a genetic amniocentesis. RESULTS: The proportion of alpha-fetoprotein-L2 + L3 in maternal serum for trisomy 21 (40.3%. P < 0.0001) and trisomy 18 (39.8%, P < 0.05) showed a significantly higher value compared with normal (32.6%). The proportion of alpha-fetoprotein-L2 + L3 in amniotic fluid was significantly higher (P < 0.0001) for trisomy 21 (46.6%) than for a normal karyotype (41.5%). Only for the trisomy 21 group was there a strong correlation in the % alpha-fetoprotein-L2 + L3 between maternal serum and amniotic fluid (r = 0.840, P < 0.0001). For all groups, there was no correlation between alpha-fetoprotein MoM and % alpha-fetoprotein-L2 + L3 in maternal serum and amniotic fluid. CONCLUSION: The proportion of alpha-fetoprotein-L2 + L3 in maternal serum is an appropriate choice for a trisomy 21 biochemical marker, and it is possible that combining alpha-fetoprotein-L2 + L3 analysis with assays of alpha-fetoprotein in maternal serum could further improve the sensitivity and specificity of multiple marker screening.

Adult↗
PubMed1999

[Apropos of a case of Dandy-Walker syndrome associated with chromosome abnormalities].

A case of Dandy-Walker syndrome associated with chromosome abnormalities (46,XX,-21, +der(13)t(13;21)(q22;q11), diagnosed during pregnancy is reported. This is a pathology characterized by malformations of the central nervous system, mainly of the cerebellum. Due to several aspects and different prognosis between classic Dandy-Walker and its variants, many clinical and therapeutic problems may raise.

Abortion, Induced↗
PubMed1995

Solar activity cycle and the incidence of foetal chromosome abnormalities detected at prenatal diagnosis.

We studied 2001 foetuses during the period of minimal solar activity of solar cycle 21 and 2265 foetuses during the period of maximal solar activity of solar cycle 22, in all women aged 37 years and over who underwent free prenatal diagnosis in four hospitals in the greater Tel Aviv area. There were no significant differences in the total incidence of chromosomal abnormalities or of trisomy between the two periods (2.15% and 1.8% versus 2.34% and 2.12%, respectively). However, the trend of excessive incidence of chromosomal abnormalities in the period of maximal solar activity suggests that a prospective study in a large population would be required to rule out any possible effect of extreme solar activity.

Adult↗
PubMed1988

Chromosomal abnormalities and sister-chromatid exchange in bone marrow cells of mice and Chinese hamsters after inhalation and intraperitoneal administration. II. Cyclophosphamide.

The genotoxic effects of cyclophosphamide (CPP), a human and animal carcinogen requiring metabolic activation, were studied in bone marrow cells of mice and Chinese hamsters, analyzing chromosome abnormalities (CA) and sister-chromatid exchange (SCE) after a 2-h inhalation or a single intraperitoneal administration. In order to compare the genotoxicity after the different routes of administration in the dose range of 10-110 mg CPP/kg body weight, the systemic dose obtained by inhalation was calculated from blood concentrations and the inhalation duration after an analysis of the CPP blood kinetics. In NMRI mice the frequency of bone marrow cells with chromosome abnormalities was higher after aerosol exposure than after intraperitoneal administration of comparable CPP doses. In Chinese hamsters the CA frequency was similar with both exposure routes. Inhaled CPP was found to induce a higher frequency of CA and SCE in the bone marrow cells of mice compared to those of Chinese hamsters. The findings suggest that for genotoxins requiring metabolic activation species differences exist with respect to the influence of the route of entry and the sensitivity of bone marrow cells.

Aerosols↗
PubMed1998

Screening for chromosomal abnormalities at 10-14 weeks: the role of ductus venosus blood flow.

OBJECTIVE: To assess the possible role of Doppler ultrasound assessment of ductus venosus blood flow in screening for chromosomal abnormalities at 10-14 weeks of gestation. METHODS: Ductus venosus flow velocity waveforms were obtained immediately before fetal karyotyping in 486 consecutive singleton pregnancies at 10-14 weeks of gestation. All cases were screened for chromosomal defects by a combination of maternal age and fetal nuchal translucency thickness. The peak systolic and diastolic velocities, the velocity during atrial contraction and the pulsatility index were measured. RESULTS: There were 63 chromosomal defects (38 cases of trisomy 21, 12 cases of trisomy 18, seven cases of trisomy 13, three cases of Turner's syndrome and three cases of triploidy). In 57 (90.5%) cases there was reverse or absent flow during atrial contraction. Abnormal ductus venosus flow was also observed in 13 (3.1%) of the 423 chromosomally normal fetuses. In the chromosomally abnormal group, compared to the normal group, the median heights of the S and D waves were significantly lower and the pulsatility index was significantly higher. However, multivariate regression analysis demonstrated that only the height of the A wave provided a significant independent contribution in distinguishing between the chromosomally normal and abnormal groups. CONCLUSION: These preliminary results suggest that assessment of ductus venous blood flow in pregnancies considered to be at high risk for chromosomal defects may result in a major reduction in the need for invasive testing, with only a small decrease in sensitivity.

Adolescent↗