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PubMedDate not supplied

[Chromosome disorders and immunoreactivity in golden hamsters infected with Opisthorchis felineus].

Opisthorchosis of golden hamster causes the disarrangement of the number and structure of chromosomes of bone marrow cells 15 days after the infection. Analogous changes take place in man's leucocytes under the influence of water-salt extract from adult trematodes. The injury of the chromosomal apparatus advances with the increasing period of the infection and is coordinated with modified immunoreactivity of the organism.

Animals↗
PubMed1992

Fetal heart rate in early pregnancy and chromosomal disorders.

OBJECTIVE: To investigate normal fetal heart rate in early pregnancy and assess the hypothesis that abnormal fetal heart rate is associated with fetal chromosomal abnormalities. DESIGN: Prospective descriptive cross-sectional study. SETTING: Antenatal clinic associated to the University Clinic of Obstetrics, University Hospital Groningen, The Netherlands. SUBJECTS: 424 pregnant women who attended for prenatal counselling. INTERVENTIONS: Measurements of fetal heart rate from 6-16 weeks gestation, cross-sectional study. MAIN OUTCOME MEASURES: Fetal heart rate expressed as beats/min. RESULTS: Karyotyping showed a normal chromosomal pattern in 414 fetuses. The median fetal heart rate increased from 138 beats/min at 6 weeks to 177 beats/min at 9 weeks, thereafter, fetal heart rate gradually decreased to 150 beats/min at 16 weeks. Karyotyping showed 10 abnormalities: five trisomies 21, three trisomies 18, and two mosaic patterns in chorionic villi. Fetal heart rate of the trisomic fetuses was distributed around the median with that of all Down's syndrome fetuses within the normal range. In one fetus with trisomy 18, the heart rate exceeded the 90th centile, in another it fell under the 10th centile. The two fetuses with a mosaic pattern in chorionic villi had heart rates outside the normal range. CONCLUSION: Fetal heart rate in chromosomally abnormal fetuses in early pregnancy do not appear to be consistently different from that in normal fetuses. The use of a single measurement of fetal heart rate is not valuable for screening purposes. Chromosomal mosaicism in chorionic villi may be associated with abnormal fetal heart rate.

Chromosome Aberrations↗
PubMed1986

A new chromosome instability disorder.

Chromosome analysis in a 31-year-old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also with primary amenorrhea, died when 20 years old with a malignant lymphoma. Chromosome studies were performed on lymphocytes and fibroblasts and in both tissues a high proportion of metaphases with multiple chromosome aberrations was found. Clonal and sporadic rearrangements, consisting of balanced and unbalanced translocations and dicentric chromosomes were more numerous than chromatid and chromosome breaks. In the lymphocytes the same unbalanced translocation t(8q;21q) was present in about 59% of the metaphases. Rearrangements involving chromosomes 7 and 14, similar to those described in patients with ataxia-telangiectasia were found, but with a lower frequency. Sister Chromatid Exchanges were not increased. Chromosome and chromatid abnormalities were enhanced after exposure of cells to mitomycin C but not after exposure to the radiomimetic drug bleomycin. Clinical and cytogenetic characteristics of the patient are compared with those of syndromes (Ataxia-Telangiectasia and Werner's syndrome) or isolated cases (Weemaes et al. 1981, Sperling 1983, Spinner et al. 1985) whose features are similar to those of our patient. This case might represent a new chromosome instability syndrome due to a recessive mutation.

Adult↗
PubMed2005

Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients.

The clinical impact of PGD was evaluated through the analysis of the reproductive outcome before and after PGD in the same group of poor prognosis IVF patients, undergoing PGD for chromosomal abnormalities. Based on a series of 2359 PGD cycles, resulting in the establishment of 498 chromosomal abnormality-free clinical pregnancies, the reproductive history prior to PGD was analysed. Of 483 previous pregnancies analysed in patients with 432 pregnancies generated after PGD for aneuploidies, 328 (68%) ended in spontaneous abortions, in contrast to 28.4% after PGD, with only 155 (32%) resulting in deliveries, compared with 71.9% take-home baby rates after PGD. The patients experienced 315 previous IVF attempts, resulting in the transfer of 706 embryos in 308 cycles, of which only 49 (6.9%) implanted, compared with a 34.9% implantation rate observed in the same patients after PGD. Similar analysis of the previous reproductive outcomes of 45 carriers of balanced translocations achieving pregnancies following PGD, showed even stronger clinical impact, with a reduction of spontaneous abortions from 87.8% to 17.8%, and improvement of take-home baby rate from 11.5% to 81.4% after PGD. The results demonstrate a strong clinical impact of PGD, resulting in improvement of implantation rate, reduction of spontaneous abortions and increase in the take-home baby rate.

Abortion, Spontaneous↗
PubMed2005

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.

Chromosome imbalances are associated with epilepsy but electro-clinical phenotypes are lacking for all but the best-known syndromes. Scanty information is contained in older case reports published in genetics journals that describe children with severe patterns of malformation and dysmorphism. From a larger series of children with chromosome abnormalities and epilepsy, we identified 10 patients with associated dysmorphism without malformation. Electro-clinical features are described for each patient. We found that these patients are at greater risk of delayed diagnosis, particularly when there are no learning difficulties at the onset of epilepsy, as in ring chromosome 20 syndrome. Chromosome studies should be ordered on all children with learning difficulties and epilepsy, and on children with atypical non-lesional epilepsy, even in the absence of learning difficulties or dysmorphism.

Brain↗
PubMedDate not supplied

Prenatal diagnosis of chromosome disorders in Tunisian population.

Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in developing countries. Finance is common reason of absence of PND development, but socio-cultural believes play an important role in Arab Muslim countries. In this paper we report results of 3110 fetal karyotypes carried out in a Tunisian population, by cultured amniocytes analysis. It is the largest report in a Muslim Arab country in our Knowledge. Abnormal karyotypes rate was 4.18% classified in two groups: bad prognosis (3.05%) and good prognosis (1.13%). Common amniocentesis indication was maternal age. The highest predictive value was observed in balanced karyotype and fetal ultrasound findings indications. Maternal serum markers were not commonly used for trisomy 21 screening. Pregnancy termination that is permitted by legal and religious authorities was accepted by 94,74% parents. Information about PND outcomes was given by genetic counselling prior to fetal sampling, pregnancy interruption was discussed with parents at cytogenetic result announcement. The authors conclude that in order to prevent mental and physical handicap related to cytogenetic disorders we have to promote PND by education for population, genetic counselling and fetal ultrasound screening; all three methods available in Tunisia.

Abortion, Induced↗
PubMedDate not supplied

[Chromosome disorders in immunocompetent and nonimmunocompetent cells of normal mice and after measles virus infection].

A spontaneous level of cytogenetic aberrations in mice is found to be higher in the thymus and spleen than in bone marrow, testes and enterocytes. Measles virus induces cytogenetic aberrations in cells of all the organs of concern, being maximum in the thymus. Rehabilitation of a cytogenetic norm is the most intensive in the spleen and bone marrow, while it is slow in the intestine epithelium.

Animals↗
PubMed2001

Biochemical screening for chromosomal disorders and neural tube defects (NTD): is adjustment of maternal alpha-fetoprotein (AFP) still appropriate in insulin-dependent diabetes mellitus (IDDM)?

Maternal serum alpha-fetoprotein (AFP) has been reported to be decreased in insulin-dependent diabetes mellitus (IDDM). The objective of the present study was to reinvestigate this finding in detail. Maternal serum levels of AFP, human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) in 114 diabetic women, of whom 84 had IDDM, were compared to those of 19,251 control pregnancies in the second trimester (15th to 20th gestational weeks). The mean body weight at the date of sampling was 73.7 kg in all diabetic women, 72.7 kg in women with IDDM and 68.3 kg in non-diabetic women, respectively. Body weights were significantly (p < 0.001) elevated in all diabetic pregnancies. Using weight-adjusted MoM (multiple of the median) values no statistical difference of serum levels in diabetic and non-diabetic pregnant women was found. Median MoM levels were 1.01 (hCG), 1.01 (uE3), 1.06 (AFP) in all diabetic women, and 0.95 (hCG), 0.96 (uE3), 0.96 (AFP) in women with IDDM, respectively. Ignoring adjustment for maternal weight leads to a reduction of all serum parameters in diabetic pregnancies. However, median MoM values of all three analytes are not statistically different when compared to non-diabetic pregnancies. This finding is contrary to the results of former studies from the 1970s and 1980s. It is concluded that progress in insulin adjustment and blood glucose surveillance of diabetic patients on the whole has balanced out serum levels. Therefore adjustment of serum AFP values for diabetic status no longer seems reasonable.

Adult↗
PubMed2006

[Chromosomal disorders in the background of azoospermia].

INTRODUCTION: Nowadays more and more couples face the fact that they cannot have babies in spite of many years of trying. The male factor can be identified in about half of these cases. AIM: The aim of this study was to analyse chromosomal alterations in patients with azoospermia. These patients may be candidates for testicular sperm retrieval and intracytoplasmatic sperm injection. MATERIALS AND METHODS: Preoperative evaluation included routine andrological investigation with 2 semen analysis, ultrasound, hormonal and genetic examination. Traditional histological examination and embryological diagnostic of tissue samples was performed. Cryopreservation of retrieved testicular tissue was also done. Between January 2001 and June 2005 73 biopsies were performed in 71 patients for testicular sperm extraction. In order to obtain an exact diagnosis, the traditional cytogenetic methods and fluorescence in situ hybridization analyses were performed in combination with molecular genetic techniques. Patients were offered to participate in the assisted reproduction programme on the base of their genetic results. RESULTS: In this study, the most characteristic cases were numerical deviations, such as 47,XXY (2 cases), mosaic 47,XXY/49,XXXXY (1 case), 47,XYY (1 case) and mosaic 46,XY/45,X (1 case) karyotypes. Non-obstructive azoospermia was diagnosed in 53 patients (79%). CONCLUSIONS: Authors emphasised the importance of cyto- and molecular examinations in cases of genetical disorders. The results provide a chance for patients to be spared from long-drawn moreover psychological burdening examinations. In addition the costs of different clinical intervention could be saved too.

Adult↗
PubMed1978

[Role of nucleases in the origination of chromosomal disorders in virus-infected cells].

It is shown that herpes simplex virus can induce the chromosome aberrations both in cells supporting the productive infection and in non-permissive cells. In virus-infected human embryo fibroblast culture the activity of cell (lysosomal) and virus-coded DNAses is elevated. Suppression of the activity of any of the enzymes leads to decreasing the number of aberrant cells. Suppression of the activity of both DNases at the same time decreases the number of aberrant cells to a control level. In M15 cells which do not support the productive infection, the activity of only lysosomal DNase is elevated. Suppression of its activity leads to the decrease of the frequency of cells with chromosome breaks to a control level. Thus, both cells and virus-coded lytic enzymes can participate in the production of chromosome breaks in virus-infected cells. Possibly, the relative role of these enzymes may be rather different in different virus-cell systems.

Cells, Cultured↗
PubMed1990

SCE-measurements as tool for evaluation of drug-induced chromosomal disorders.

A staining procedure that detects sister chromatid exchanges has been used to examine the response of chromosomes in cultured human fibroblasts to a series of chemical and physical mutagens. The test represents a sensitive and reproducible method for detecting mutagenicity on the chromosome level. It provides a powerful method for the detection of environmental mutagens and can be used in ocular toxicity studies.

Bleomycin↗
PubMed1988

Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study.

A multicentric study was carried out to analyse in a large series: (i) the chromosomal status of unfertilized oocytes, (ii) errors at fertilization and (iii) the chromosomal complement of cleaved embryos. Parameters such as type of sterility, maternal age, stimulation treatment, doses of gonadotrophins administered and oocyte preincubation time before insemination were studied in relation to the incidence of chromosome abnormalities. Twenty-six per cent of the unfertilized oocytes and 29.2% of the embryos had chromosome anomalies. Maternal age significantly increased the rate of aneuploidy in oocytes: 38% in patients over 35 years (versus 24% in younger patients). Fertilization-related abnormalities were significant, i.e. 1.6% parthenogenesis and 6.4% polyploidy. Unexplained infertility was correlated with an increase in the rate of parthenogenesis (4.2%) when compared with tubal infertility (1.2%). Triploidy was found to be correlated with three parameters. A lower rate of triploidy was observed in the group of couples referred because of male sterility (1.9% versus 6.3% for tubal sterility), in HMG-treated patients (2.4% versus 7% with analogues of LHRH/HMG) and with a short 2-h preincubation time before insemination (3% versus 7.2% for greater than 2 h). A general model for natural selection against embryos carrying a chromosome imbalance was proposed.

Chromosome Aberrations↗