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At least 469 records · Page 26Linked to original sources
PubMed1999

Implications of sperm chromosome abnormalities in recurrent miscarriage.

PURPOSE: Our purpose was to assess the existence of sperm chromosome abnormalities in recurrent pregnancy loss in an assisted reproduction program. METHODS: In this prospective study, 12 sperm samples from couples undergoing in vitro fertilization with two or more first-trimester spontaneous abortions were analyzed. Diploidy and disomy in decondensed sperm nuclei were assessed for chromosomes 13, 18, 21, X, and Y using two- and three-color fluorescence in situ hybridization. RESULTS: Sex chromosome disomy in sperm samples from recurrent abortion couples was significantly increased compared to that from internal controls (0.84% vs 0.37%). In a subpopulation of seven couples who underwent oocyte donation, mean frequencies for sex chromosome disomy (1%) were even higher and diploidy (0.43%) was also significantly increased. CONCLUSIONS: These results suggest an implication of sperm chromosome abnormalities in some cases of recurrent pregnancy loss.

Abortion, Habitual↗
PubMed1984

A cytogenetic survey of mentally retarded children in Taiwan: final report on the incidence of chromosome abnormalities.

A cytogenetic survey of 470 mentally retarded children from three different sources is reported. Thirty-eight patients (8.08%) were found to have recognizable chromosome abnormalities, including 4 cases of sex chromosomes and 34 cases of autosomes. The most prominent category of abnormality was trisomic 21, a total of 26 cases of this type was found in this study. Sex chromosome abnormalities contribute very little to the etiology of mental retardation. From the results of our three groups of patients as well as from those surveyed by others, it is concluded that the more severe the degree of mental retardation, the higher the incidence of chromosome abnormalities.

Adolescent↗
PubMedDate not supplied

Chromosomal abnormalities in non-Hodgkin lymphoma with peripheral T-cell type: effect of HTLV-I infection.

Cytogenetic studies were done in lymph node and peripheral leukemic cells from sixteen patients with non-Hodgkin lymphoma with peripheral T-cell type. Ten patients were positive for human T-cell leukemia virus I (HTLV-I) proviral DNA in tumour cells and six were negative. The former group had a higher tendency for leukemic conversion and poorer prognosis than the latter. However, no definite difference on the numerical and structural chromosomal abnormalities between these two groups was found. The most frequent chromosome abnormalities: 14p+, 14q+ and No. 6 abnormalities were detected in both groups. These results may indicate that HTLV-I does not play a specific role in chromosome abnormalities of non-Hodgkin lymphoma with peripheral T-cell type.

Adult↗
PubMed1996

Sustained trilineage recovery and disappearance of abnormal chromosome clone in a patient with myelodysplastic syndrome following combination therapy with cytokines (granulocyte colony-stimulating factor and erythropoietin) and high-dose methylprednisolone.

We report a case of hypoplastic myelodyplastic syndrome (MDS) (refractory anemia (RA)) in which sustained trilineage haematological response and persistent disappearance of an abnormal chromosome clone were achieved after treatment with combination therapy of cytokines (granulocyte colony-stimulating factor (G-CSF) and erythropoietin (Epo)) and methylprednisolone (mPSL) pulse dose. The patient's haematological recovery was rapid and maintained even after cessation of the therapy. In addition, the predominant chromosome clone 13q- in bone marrow cells disappeared in the fourth week. The patient's improved bone marrow haemopoiesis and disappearance of the abnormal chromosome has continued to the present, 13 months after treatment. The occurrence of both trilineage response and abnormal chromosome disappearance in MDS patients treated with cytokine(s) or steroids is rare. Combination therapy might therefore be advantageous in MDS.

Anti-Inflammatory Agents↗
PubMed2006

XYY chromosome abnormality in sexual homicide perpetrators.

In a retrospective investigation of the court reports about sexual homicide perpetrators chromosome analysis had been carried out in 13 of 166 (7.8%) men. Three men (1.8%) with XYY chromosome abnormality were found. This rate is much higher than that found in unselected samples of prisoners (0.7-0.9%) or in the general population (0.01%). The three men had shown prepubescent abnormalities, school problems, and had suffered from physical abuse. The chromosome analysis in all cases had been carried out in connection with the forensic psychiatric court report due to the sexual homicide. However, two men had earlier psychiatric referrals. All were diagnosed as sexual sadistic, showed a psychopathic syndrome or psychopathy according to the Psychopathy Checklist-Revised [Hare RD, 1991, The Hare Psychopathy Checklist-Revised, Toronto, Ontario, Canada: Multi-Health Systems]. Two were multiple murderers. Especially forensic psychiatrists should be vigilant of the possibility of XYY chromosome abnormalities in sexual offenders.

Adult↗
PubMed1989

Fetal biometry as a screening tool for the detection of chromosomally abnormal pregnancies.

Recent studies suggest that fetal biometry may allow recognition of pregnancies at risk for Down syndrome. Second-trimester biparietal diameter (BPD)/femur length and observed-to-expected femur length ratios were examined in 48 chromosomally abnormal fetuses and compared with those of a control population composed of both low-risk patients (maternal age less than 35 years) and high-risk patients (maternal age 35 years or more). Biparietal diameter/femur length ratio correctly identified 18% of Down syndrome pregnancies with a positive predictive value of one in 169 and a false-positive rate of only 4%. When trisomies 21, 18, and 13 were considered collectively, a sensitivity of 29% and a predictive value of one in 78 were achieved, with no increase in the false-positive rate (4%). Observed-to-expected femur length ratio was less valuable in detecting chromosomally abnormal fetuses. These data suggest that the BPD/femur length ratio holds promise as a screening tool for the antenatal detection of fetal chromosomal abnormalities. Although encouraging, extrapolation of these results to other centers is not recommended without independent verification.

Biometry↗
PubMed2004

Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. A study of 370 couples and review of the literature.

Intracytoplasmic sperm injection (ICSI) is now widely acknowledged as the most effective therapeutic approach to severe male infertility or unsuccessful in vitro fertilization. Cytogenetic investigations were performed in 370 females and 335 males prior to ICSI between January 1997 and April 2003. Nine men (2.7%) and 48 women (13%) had an abnormal karyotype, 44 females having some degree of numerical sex chromosome mosaicism. A review of the literature showed the prevalence of all types of chromosomal abnormalities to be much higher among male and female partners of couples examined prior to ICSI than among newborns. As most ICSIs are performed with ejaculated spermatozoa from oligospermic men, the distribution and the prevalence of the several types of chromosomal abnormalities are closer to those of oligospermic rather than azoospermic males. Our results combined with those of the literature stress the importance of karyotyping both male and female partners before ICSI is started. Adequate genetic counselling, possibly followed by prenatal diagnosis, should be offered if a chromosomal anomaly is detected.

Chromosome Aberrations↗
PubMed2005

[Rapid prenatal diagnosis of chromosome abnormalities: from FISH to QF-PCR].

Prenatal diagnosis for pregnancies at increased risk for chromosome abnormalities is routinely undertaken by karyotype analysis. While karyotype analysis remains the standard method to detect structural and copy number changes of chromosomes, it requires prolonged cell culture resulting in average reporting times of about two weeks. To relieve parental anxiety, and improve the quality and plasticity of pregnancy management, rapid methods, such as FISH and QF-PCR have recently been developed. These procedures are capable of detecting > 70% of chromosome abnormalities, and deliver a reliable diagnosis within 24 hours. Here we compare and discuss the advantages and limits of these rapid assays, and position them into a broader ethical context.

Chromosome Aberrations↗
PubMed1989

Association of a mature B cell leukemia with a 4p+ chromosomal abnormality: derivation and characterization of a cell line.

We have found a single 4p+ chromosomal abnormality, 46,XX, -4, +der(4)t(3;4)(q13.3;p16), in a patient with an unusual B cell leukemia of mature phenotype characterized by a high white cell count, tartrate-resistant acid phosphatase-positive malignant cells, splenic white pulp proliferation, and a serum IgM monoclonal gammopathy. The malignant cells were characterized by surface expression of CD19 (B4), CD20 (B1), IgM, IgD, kappa, and HLA-DR. They were weakly positive for CD21 (B2) and negative for CD25 (interleukin-2 receptor). The malignant cells also showed clonal rearrangement of the immunoglobulin heavy chain and kappa light chain genes. A cell line, designated HCLW-3B, was derived from unstimulated peripheral blood obtained during the leukemic phase and was found to contain the same 4p+ chromosomal abnormality as well as genomic sequences of the Epstein-Barr virus nuclear antigen. A somatic cell hybrid constructed from HCLW-3B containing the derivative chromosome 4 was used to confirm that chromosome 3q was the source of the translocated material. The availability of a cell line which is clonally derived from the patient's circulating leukemia cells should permit further characterization of this translocation at the molecular level.

Blotting, Southern↗
PubMed2000

Assessing chromosomal abnormalities in two-cell bovine in vitro-fertilized embryos by using fluorescent in situ hybridization with three different cloned probes.

The aim of this study was to assess the efficiency of fluorescent in situ hybridization (FISH) for detecting chromosomal abnormalities in in vitro-fertilized (IVF) bovine embryos as early as the 2-cell stage. Three different cloned probes were used, two derived from a unique sequence specific to the subtelomeric (D1S48) or subcentromeric regions (19C10) of chromosome 1 and the third (H1A clone) derived from a repetitive sequence that hybridizes to the subcentromeric regions of three other chromosomes (14, 20, 25). Our results show that the incidence of chromosomal abnormalities in 2-cell bovine IVF embryos varied from 28% to 44% according to the probes used for the analysis. Whereas the efficiency of FISH was high with somatic nuclei, it appeared to be highly variable with the 2-cell embryos. FISH efficiency depended firstly on the probe sequence (repetitive or unique sequence), secondly on the chromosomal target region (centromeric or telomeric regions), and thirdly on the embryo cell cycle phase. With a unique sequence probe (19C10) specific to the subcentromeric regions, FISH efficiency was better on nuclei in the S-phase cycle than on those in the G-phase. In S-phase 2-cell embryos, the overall incidence of chromosomal abnormalities was more accurately assessed. It reached 13% and was represented by 1n/2n mixoploidies.

Animals↗
PubMed1990

Radiation exposure and chromosome abnormalities. Human cytogenetic studies at the National Institute of Radiological Sciences, Japan, 1963-1988.

The results of human cytogenetic studies performed at the National Institute of Radiological Sciences (NIRS), Chiba, Japan for about 25 years are described. The studies were pursued primarily under two major projects: one involving people exposed to radiation under various conditions and the other involving patients with malignant diseases, especially leukemias. Whereas chromosome abnormalities in radiation-exposed people are excellent indicators of radiation exposure, their behavior in bone marrow provide useful information for a better understanding of chromosome abnormalities in leukemias and related disorders. The role of chromosome abnormalities in the genesis and development of leukemia and related disorders is considered, suggesting a view for future studies in this field.

Animals↗
PubMed2006

Trisomy 19 as the sole chromosomal abnormality in proliferative chronic myelomonocytic leukemia.

Distinct morphologic and clinical features associated with specific chromosomal abnormalities have been described in subgroups of myelodysplastic syndromes (MDS), which often are losses or gains and only rarely translocations. Among 103 consecutive MDS patients diagnosed and karyotyped at the Albert-Ludwigs University of Freiburg (ALU) between 1993 and 1999, two chronic myelomonocytic leukemias (CMMoL) displayed trisomy 19 (+19) as the sole chromosomal abnormality. Three further CMMoL cases with +19 as the single abnormality, two of which previously reported, were collected from other centers. Four of the five patients presented with leukocytosis and splenomegaly, and an increased number of ringed sideroblasts was observed in two cases. Treatment was low-dose Decitabine (cases 1 and 2), oral steroids (case 3), hydroxyurea (case 4), and daunorubicin/Ara-C (case 5). Transformation to acute myeloid leukemias (AML) occurred in three/five patients (cases 1, 2, and 4) 26, 12, and 22 months after diagnosis of CMMoL, respectively. We conclude that +19 as the sole anomaly is a rare but recurrent change in CMMoL, in particular of the proliferative type. It is at present unclear which gene(s) located on chromosome 19 might have a functional role for the development of this phenotype.

Aged↗
PubMedDate not supplied

[Prognostic significance of additional chromosomal abnormalities in Ph positive bone marrow cells in chronic myeloid leukemia].

We studied the prognostic significance of combination of different chromosomal abnormalities and genomic mutations in Ph+ chronic myeloid leukemia patients. In general 49 cytogenetic analyses of bone marrow aspirate from 35 patients (11 of these observed in dynamics) have been carried out. The additional chromosome changes were found in 25.07% cases and approximately 80% of anomalies appeared in the blast phase. Among the secondary chromosomal abnormalities extra Ph-chromosome appeared mostly in different combinations with trisomy of chromosomes 8 and 19. Appearance of clonal differences of cells, high rate of genome mutations and of microchromosomes had negative prognostic significance on disease proceeding.

Bone Marrow Cells↗
PubMed1982

[Constitutional chromosome abnormalities and acute leukemia].

A review on the association between acute leukemias (AL) and constitutional chromosome abnormalities (CCA) is presented. AL, myeloblastic or lymphoblastic according to age are 16 to 20 times more frequent in Down Syndrome (DS) children than in non DS children. The incidence of acquired chromosome abnormalities is similar in leukemic cells of DS and non DS patients but the type of anomalies, in the leukemic myeloblastic cells of DS, are different: hyperdiploidy, excess of C, F and G. Gain of chromosomes 8, 19 and 22 would characterize leukemic myeloblasts in an early stage of differentiation. Recent data on transient leukemoid reactions show that a 21 in DS appears to be predisposing factor in the development of AL. Association between AL and other balanced or unbalanced CCA appears until now to be fortuitous.

Acute Disease↗
PubMedDate not supplied

The relationship between sperm chromosomal abnormalities and sperm morphology in humans.

It has been suggested that an assay for sperm morphology might prove useful as an initial screen in evaluating men at risk for an increased frequency of sperm chromosomal abnormalities. In this study, the technique for analysis of human sperm chromosomes after penetration of hamster eggs was employed to determine whether there is an association between the frequency of chromosomally and morphologically abnormal sperm. 30 healthy men of proven fertility were studied. The ages of the donors ranged from 22 to 55 years. The analysis was performed "blindly" so that the technician analysing the chromosome spreads had no knowledge of the age of the donors or of the individual frequencies of morphologically abnormal sperm. There was no significant relationship between the proportion of morphologically abnormal sperm and the proportion of chromosomally abnormal sperm when controlled for age. This was true for the total frequency of chromosomal abnormalities and also for numerical and structural chromosomal abnormalities. These results suggest that an assay of morphology is not a good indication of chromosomal normality in human sperm.

Adult↗
PubMed1992

Risk of chromosomal abnormalities in patients with idiopathic polyhydramnios.

This prospective investigation was designed to assess the incidence of chromosomal abnormalities in patients with idiopathic polyhydramnios. Polyhydramnios was defined as 25 cm or greater in total vertical height in all four quadrants (amniotic fluid index) in any nonreferral patient (ie, primary care population) undergoing sonographic examination with a singleton pregnancy, normal fetal anatomical survey, normal glucose screening, and negative antibody screen. During the 2-year period from May 1, 1988 through April 30, 1990, 5038 gravidas delivered at Madigan Army Hospital Center. Unexplained polyhydramnios was detected sonographically in 125 patients, an incidence of 2.5%. After obtaining informed written consent, amniocentesis was performed in all patients. Within this group (N = 125), four chromosomal abnormalities (incidence of 3.2%) were detected. There were two trisomy 18 and two trisomy 21 fetuses. None of the four patients had maternal serum alpha-fetoprotein screening performed. The incidence of aneuploidy in patients with idiopathic polyhydramnios (3.2%) is much higher than the reported incidence of major karyotype abnormalities in live births (0.59%). We conclude that fetal chromosomal analysis should be considered in all obstetric patients with sonographic evidence of idiopathic polyhydramnios.

Chromosome Aberrations↗
PubMed1990

[Chromosome abnormalities of human gametes].

Human newborns carrying chromosomal abnormalities are the survivors of a considerably larger cohort of affected conceptions. A direct cytogenetic study of these conceptuses would imply their destruction. Moreover, the ability to determine the parental origin of an additional or missing chromosome is limited from a methodological point of view. The cytogenetic study of human gametes provides information on these mechanisms. Several large-scale studies on sperm complements of normal men give an estimated abnormality rate of 10%. Our results concerning four carriers of reciprocal translocations show no evidence for a selection against abnormal sperm. Since about 30% of the recovered eggs fail to become fertilized in IVF programs, human oocytes have become available for large cytogenetic studies. Analysis of oocytes II provides information on the first meiotic non-disjunction rate. In our sample of 405 karyotypes, the rate of aneuploidy was 27%. No relationship was established between this frequency and the mode of stimulation of ovulation. No increase was observed with maternal aging.

Adult↗
PubMed1998

Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks.

At 10-14 weeks of gestation more than 80 per cent of fetuses affected by trisomy 21 can be detected by a screening programme based on a combination of maternal age and fetal nuchal translucency thickness (NT). The screen positive group in such a programme also identifies fetuses with sex chromosome abnormalities. In this ongoing multicentre screening study, involving 61,972 singleton pregnancies, 53 cases of sex chromosome abnormalities were identified. The fetal NT was above the 95th centile in 87.9 per cent of the 33 cases with 45,XO, and in 40 per cent of the 20 cases with 47,XXX, 47,XYY or 47,XXX. However, it was estimated that at 12 weeks of gestation our population would contain 42 cases with 45,XO and 104 cases with 47,XXY, 47,XYY or 47,XXX. Since the rate of intra-uterine lethality, between 12 and 40 weeks of gestation, is about 65 per cent for 45,XO and four per cent for 47,XXY, 47,XYY or 47,XXX, the respective number of livebirths with these chromosomal abnormalities would have been 15 and 100, respectively, without prenatal diagnosis. Assuming that all intra-uterine deaths are from those with increased NT, screening for trisomy 21 by maternal age and fetal NT would have identified only 20 per cent of potential livebirths in the 45,XO group and nine per cent of those with 47,XXY, 47,XYY or 47,XXX.

Down Syndrome↗