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PubMed2006

The frequency of chromosomal abnormalities in patients with reproductive failure.

OBJECTIVE: To investigate the ratio of chromosomal abnormalities in recurrent fetal wastage. STUDY DESIGN: We conducted a study of the cytogenetic data of 645 couples (1290 patients) with recurrent fetal wastage examined at the Department of Medical Biology and Genetics, Trabzon, Turkey. Couples who had first trimester miscarriages/abortion, preceded or followed by a second or third trimester fetal death/fetal abnormalities were recruited from Obstetrics and Gynecology Clinics for cytogenetics analysis. RESULTS: Chromosome abnormalities were found in 25 (3.86%) patients. The chromosomal abnormalities were structural (3.71%) and numerical (0.15%). Polymorphisms of heterochromatin blocks and inv(9) were shown in 115 (17.51%) patients. CONCLUSIONS: Chromosome analyses are an important and necessary part of the etiological research in couples with recurrent fetal wastage.

Abortion, Habitual↗
PubMed1992

Fetal body ratios in second trimester: a useful tool for identifying chromosomal abnormalities?

This study was carried out to determine if second trimester fetal body ratios are useful in detecting chromosomally abnormal fetuses. As a reference population, normative data for five fetal body ratios (femur length/biparietal diameter, biparietal diameter/fetal length, femur length/head circumference, head circumference/abdominal circumference, and femur length/abdominal circumference) were derived using regression analysis from a population of chromosomally normal fetuses (n = 1770) who underwent genetic amniocentesis at our institution between 14 and 21 menstrual weeks. During the same time period, 37 chromosomally abnormal fetuses were identified by amniocentesis. In comparing the two groups using the 10th and 90th percentiles as cutoffs between normal and abnormal, approximately 25% of chromosomally abnormal fetuses were identified, whereas approximately 20% of the normal fetuses were incorrectly classified as abnormal. Moreover, the use of 1.5 standard deviations above the mean for BPD/FL identified only 19% of Down syndrome fetuses. Our data, and those from a comprehensive review of the literature, suggest that the sensitivity of these ratios in detecting chromosomally abnormal fetuses is too low to recommend them for routine screening.

Anthropometry↗
PubMed1985

Chromosomal abnormalities in chronic lymphocytic leukemia.

Peripheral blood lymphocytes from five chronic lymphocytic leukemia (CLL) patients were cultured with PHA for 3-6 days. Chromosomal analysis with G-banding showed 25% of the diploid metaphases were pseudodiploid as a result of either a chromosomal deletion or a translocation. Abnormal clones with 18p- were seen in two patients, and two other patients had 18p- metaphases, but with other inconsistent abnormal chromosomes. None of the patients had trisomy 12, which has been thought by some to carry a poor prognosis. Although no conclusion can be reached regarding the significance of the chromosomal abnormalities in CLL, the type of chromosomal abnormalities in these patients suggests that they are the result of chromosomal breakage and abnormal repair.

Aged↗
PubMed1998

Chromosome abnormalities in embryos obtained after conventional in vitro fertilization and intracytoplasmic sperm injection.

OBJECTIVE: To compare the rate of numerical chromosome abnormalities in embryos derived from bipronucleated zygotes produced by intracytoplasmic sperm injection (ICSI) and conventional IVF. DESIGN: Embryos were classified by maternal age and morphological and developmental characteristics to avoid bias when comparing chromosome abnormalities in ICSI and IVF embryos. SETTING: The Institute for Reproductive Medicine and Science of Saint Barnabas Medical Center, West Orange, New Jersey. PATIENT(S): Seventy-nine couples undergoing IVF and 53 couples undergoing ICSI. INTERVENTION(S): Embryos donated for research were fully biopsied, and their cells were analyzed by fluorescence in situ hybridization with specific probes for chromosomes X, Y, 13, 18, and 21 and some with also a probe for chromosome 16. MAIN OUTCOME MEASURE(S): Embryo chromosome abnormalities. RESULT(S): A total of 245 embryos obtained through conventional IVF and 136 embryos obtained through ICSI were analyzed. There were no statistical differences between the rates of numerical chromosomal abnormalities detected in the IVF (61%) and ICSI (52%) embryos analyzed. Regarding gonosomal aneuploidy, the same rate was found in both ICSI (1%) and IVF groups (2%). CONCLUSION(S): If the parents are chromosomally normal, the results indicate that, at the embryo level and before any embryo selection has occurred in utero, ICSI does not produce more numerical chromosomal abnormalities than conventional IVF.

Adult↗
PubMed1987

A specific chromosomal abnormality in rhabdomyosarcoma.

A specific chromosomal abnormality, t(2;13)(q35;q14), was discovered in five cases of advanced rhabdomyosarcoma. It was identified directly in cells that had metastasized from bone marrow in one patient and in xenografts derived from the tumors of four other patients. The translocation was not restricted by histologic subtype, but was found in cases classified as alveolar, undifferentiated, or embryonal. Cytogenetic hallmarks of gene amplification (double minute chromosomes and homogeneously staining regions) were apparent in three cases. Other frequent abnormalities included rearrangements of chromosomes lp and trisomy of chromosome 8. The absence of the t(2;13) in more than 100 cases of other pediatric solid tumors investigated in our laboratory indicates its specificity for rhabdomyosarcoma. These cytogenetic findings suggest directions for further investigation of the molecular events underlying the genesis of this tumor.

Adolescent↗
PubMed2000

Enhanced detection of chromosomal abnormalities with the use of RxFISH multicolor banding technique.

Hematological disorders often have complex karyotypes with multiple markers. Proper assignment of chromosome number or aberration or both can be difficult. Specific identification of chromosomal abnormalities aids in the diagnosis and selection of treatment of patients. Fluorescence in situ hybridization (FISH) has been applied to the identification of translocations, markers, and other chromosomal abnormalities in clinical cytogenetics. However, the standard FISH technique is unable to detect the entire genome in a single experiment. This report presents the use of a cross-species comparative genomic hybridization color-banding technique (RxFISH) that permits examination of an entire karyotype at one time. Specimens from two patients, one with acute lymphocytic leukemia (ALL) and the other with multiple myeloma (MM), were studied. Metaphases were prepared by standard culture techniques. Conventional cytogenetic analysis (GTG banding) showed multiple clones in each of the cases. These clones were hyperdiploid metaphases with complex chromosomal abnormalities and multiple markers. The slides were then hybridized with FITC-, Cy-3-, and Cy-5-labeled RxFISH probes; the results were analyzed by a digital imaging system. The RxFISH color banding confirmed the hyperdiploid metaphases and identified multiple chromosomal abnormalities. In the specimen from the patient with ALL, several chromosomes, which had been classified as markers by G-banding, were found to be specific chromosomes. This study suggests that RxFISH can provide more accurate and specific identification of complex chromosomal abnormalities. RxFISH is a useful complement to the clinical cytogenetic laboratory armamentarium.

Bone Marrow↗
PubMed1994

Hairy cell leukemia is characterized by clonal chromosome abnormalities clustered to specific regions.

Cytogenetic analysis was performed on B-cell mitogen-stimulated cells from 36 patients with symptomatic hairy cell leukemia. Evaluable metaphases were achieved from 30 patients, and (67%) showed clonal abnormalities. Recurrent chromosomal aberrations involving chromosomes 1, 2, 5, 6, 11, 19, and 20 were found. The abnormalities were mostly deletions and inversions, whereas translocations and numerical abnormalities, except trisomy 5, were rare. Fourteen patients showed multiple clones, which mostly were unrelated and found in different combinations in individual cells. Cells with non-clonal abnormalities identical to those found in clonal changes in other patients were common. Chromosome 5 was involved in clonal aberrations in 12 of 30 (40%) patients, most commonly as trisomy 5 (n = 4), or pericentric inversions (n = 6) and interstitial deletions (n = 4) involving band 5q13. Three patients showed two and 1 patient three different clones that involved chromosome 5. In addition, 1 patient had a rare constitutional inversion of chromosome 5 with breakpoints at p13.1 and q13.3. Pericentric inversions and interstitial deletions of chromosome 2 occurred clonally in 4 patients (13%) and in single cells of another 6 patients. Deletions of chromosome 1 at band q42 was found in 5 patients, and 1 patient had a translocation between 1q42 and a supernumerary chromosome 5. Deletions of 6q and 11q were similar to those commonly found in other lymphoproliferative disorders. Trisomy 5, structural abnormalities involving the pericentromeric regions of chromosomes 5 and 2, and 1q42 abnormalities were findings distinguishing the karyotypes in hairy cell leukemia from those of other hematologic malignancies.

Adult↗
PubMed2001

[Detection of submicroscopic chromosome abnormalities by comparative genomic hybridization].

INTRODUCTION: The purpose was to detect chromosome abnormalities in dysmorphic and mentally retarded individuals with normal karyotypes by means of comparative genomic hybridisation (CGH). MATERIAL AND METHODS: One hundred and forty-four individuals with normal karyotype underwent CGH analysis with a new detection technique where fixed limits are replaced by dynamic standard reference intervals. This method provides improved resolution and thereby detects minor chromosome abnormalities. RESULTS: Fifteen minor abnormalities (10%) and one trisomy 9 mosaic were found. Eleven were interstitial deletions or duplications, which cannot be detected by screening with other cytogenetic techniques. Three were terminal deletions or duplications and one was a terminal unbalanced translocation. DISCUSSION: CGH analysis with dynamic standard reference intervals is a new objective and quantitative method, which is suitable for screening for small chromosome abnormalities that can not be detected by conventional chromosome analysis. The method is recommended for use in the investigation of dysmorphic and mentally retarded individuals, in whom abnormalities are not found by ordinary karyotyping.

Chromosome Aberrations↗
PubMed1995

Chromosomal abnormalities in non-neoplastic renal tissue.

Chromosome aberrations were studied in short-term cultures of non-neoplastic renal tissue and tumor tissue in 60 patients, 41 male and 19 female, with renal cell cancer (RCC), and in normal renal parenchyma from two cases, one male and one female, at autopsy with non-kidney related disease. Cytogenetic analysis of the non-neoplastic renal tissue from the patents with RCC revealed clonal chromosome aberrations in 32 of 60 (53%) cases: -Y, +Y, +X, +5, +7, +10, +12, +13, +18, +21, and del(9)(q12). In all other cases, non-clonal numerical and structural chromosome aberrations were observed, except for three cases of culture failure. Forty-two cases of RCC yielded clonal chromosomal abnormalities. Trisomy 7 was present in 23 cases, loss of Y in 14, trisomy 5 and 12 in three, trisomy 18 in two cases, and trisomy 10 in one case. Clonal chromosomal anomalies found in two cases from kidneys without neoplasia were trisomy 7, trisomy 12, and trisomy 18 in one case, and monosomy of chromosome 15 in the other. The proportion of aberrant cells in both cases (with clonal and non-clonal aberrations) was, on average, 24%. Apparently, chromosomal abnormalities only play a role in the process of oncogenesis when they are in the appropriate stage and lineage of differentiation.

Carcinoma, Renal Cell↗
PubMed1999

Second-trimester maternal urine human chorionic gonadotrophin beta-core fragment concentrations in Asian pregnancies with fetal chromosomal abnormalities.

The aim of this study was to investigate the second trimester concentrations of maternal urine human chorionic gonadotrophin beta-core fragment (HCGbetacf) in Asian pregnanci2es with fetal chromosomal abnormalities. HCGbetacf concentrations were analysed from 34 urine samples in chromosomally abnormal pregnancies, including 28 cases of Down's syndrome, one case of trisomy 18, and five cases of other chromosomal abnormalities (one mosaic deletion and four translocations), and in a cohort of 268 normal pregnancies receiving second trimester amniocentesis. Results were normalized to urine creatinine (Cr) concentration and converted to the multiple of the median (MOM) concentration for the appropriate gestation. The median HCGbetacf MOM concentrations of Down's syndrome pregnancies (12.89) was significantly higher than that of normal pregnancies (1. 06) (P < 0.00001). Wide variations of HCGbetacf concentrations were observed in other chromosomally abnormal pregnancies. There were 18 of 28 (64%) Down's syndrome cases but one of five (20%) other chromosomally abnormal cases with HCGbetacf concentrations above the 95th centile of the control values (8.22 MOM cut-off). These findings suggest that HCGbetacf could be a potential marker in urine screening for fetal Down's syndrome in Asians.

Adult↗
PubMed1982

A total population study of diagnosed chromosome abnormalities in Queensland, Australia.

Aneuploidy and structural chromosome rearrangements comprise a significant group of abnormalities in the general population. The true incidence of such abnormalities can be obtained by large research studies of consecutive newborns. In practice, the observed incidence of such chromosome abnormalities is obtained by karyotyping subjects who present for clinical reasons. The difference between the observed clinically indicated rates and the assumed rate (by comparison with data from consecutive newborn studies) would allow the estimation of the unrecognised chromosome abnormality load in the general population. The difference between these two rates would provide valuable data concerning the appropriateness of selection techniques for routine chromosome analysis. This paper reports such a study, from Queensland, Australia. A total population 5-year survey (1976-1980) of the diagnosed chromosome abnormalities in this unselected primary population of 2.2 million people is reported. Five hundred and eighty-nine chromosome abnormalities were detected in a consecutive series of 6092 karyotypes performed (9.7%). This figure is significantly lower than that found in most other reported series where case selection for karyotyping is determined by clinical criteria. In this current study the annual diagnostic rate for chromosome abnormalities was 5.41 per 100,000 of the general population. Cumulative frequency histograms for all types of chromosome abnormality, by age, are presented. In current practice, 32% of chromosome abnormalities are not diagnosed until adult life. Fifty percent of cases of chromosome abnormality (of all types) remain undiagnosed by the age of 1 year, in spite of a relatively liberal acceptance rate on the part of laboratories offering routine karyotyping services. It is concluded that a positive diagnostic rate greater than 10%, in routine chromosome laboratories, probably indicates that more than half the true cases of chromosome abnormality in a population are being missed.

Adolescent↗
PubMed2005

[Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome].

OBJECTIVE: To investigate the correlation of male infertility with abnormality of chromosomal quantity and construction and with the deletion of DAZ gene copy in the AZFc region of Y chromosome. METHODS: Included in the study were 247 azoospermic and 206 severe oligozoospermic patients, as well as 210 fertile men as controls. Multi-PCR and PCR-RFLP were used to analyze the deletion of DAZ gene copies in the AZFc region of Y chromosome. Chromosomal quantity and construction were detected by G-band in the 453 patients. RESULTS: In the azoospermic and severe oligozoospermic patients, the incidences of chromosomal abnormality were 12.6% and 8.3%; the rates of complete DAZ deletion were 7.7% and 11.2%, and the rates of DAZ1/DAZ2 deletion were 7.3% and 4.9% respectively, but no deletion was detected in the controls. CONCLUSION: There is a high frequency of chromosomal abnormality and DAZ gene copy deletion in patients with azoospermia and oligospermia, which suggests that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility.

China↗
PubMed2000

Chromosomal abnormalities and schizophrenia.

Schizophrenia is a common and serious psychiatric illness with strong evidence for genetic causation, but no specific loci yet identified. Chromosomal abnormalities associated with schizophrenia may help to understand the genetic complexity of the illness. This paper reviews the evidence for associations between chromosomal abnormalities and schizophrenia and related disorders. The results indicate that 22q11.2 microdeletions detected by fluorescence in-situ hybridization (FISH) are significantly associated with schizophrenia. Sex chromosome abnormalities seem to be increased in schizophrenia but insufficient data are available to indicate whether schizophrenia or related disorders are increased in patients with sex chromosome aneuploidies. Other reports of chromosomal abnormalities associated with schizophrenia have the potential to be important adjuncts to linkage studies in gene localization. Advances in molecular cytogenetic techniques (i.e., FISH) have produced significant increases in rates of identified abnormalities in schizophrenia, particularly in patients with very early age at onset, learning difficulties or mental retardation, or dysmorphic features. The results emphasize the importance of considering behavioral phenotypes, including adult onset psychiatric illnesses, in genetic syndromes and the need for clinicians to actively consider identifying chromosomal abnormalities and genetic syndromes in selected psychiatric patients.

Aneuploidy↗
PubMed1998

Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases.

The aim of this study was to calculate the expected incidences of chromosome abnormalities found at amniocentesis in Japanese women aged 35 and older. From four clinics in Japan, we gathered genetic amniocentesis data on 5484 pregnant women at risk only due to their advanced age, 35 years and older. We analyzed the data using the logistic regression model. Of the 5484 fetuses, 117 (2.1%) were diagnosed with a chromosome abnormality. The abnormal karyotypes included 42 cases of trisomy 21; 13 of trisomy 18; 7 of trisomy 13; 10 of 47,XXY; 4 of 47,XXX; 1 of 47,XYY; 27 with various structural aberrations; and 13 with various types of mosaicism. The incidences of trisomy 21, lethal autosomal aneuploidies (trisomy 18 and trisomy 13), and sex-chromosome abnormalities (XXY, XXX, XYY) increased with maternal age. Parameters of the regression equations with their standard errors were calculated and the expected incidences of chromosome abnormalities at each maternal age were derived. The expected incidences of chromosome abnormalities obtained in this study are the first data published for Japan and will be useful for the counseling of pregnant women. The incidence of trisomy 21 is not different from the rates published previously for Western countries. The incidences of chromosome abnormalities are not affected by race or by geographic factors.

Age Factors↗
PubMed1996

The relationship between chromosomal abnormality in the human preimplantation embryo and development in vitro.

The relationship between the survival of the human preimplantation embryo in vitro and chromosomal abnormality was investigated by cytogenetic analysis of a total of 250 embryos of varying morphology between the pronucleate stage and the 8-cell stage. The overall incidence of chromosomal abnormality among these embryos was 49%. At the pronucleate stage (n = 46) the incidence was 65.2%, at the 2-4-cell stage (n = 126) it was 54.6%, and at the 5-8-cell stage (n = 78) it was 27.4%. Cleavage-stage embryos with poor morphology (irregular shaped blastomeres with severe extracellular fragmentation) showed a higher incidence of chromosomal abnormality (62%; 54 of 87 analysed) than those with good morphology (22.2%; 26 of 117 analysed). This study demonstrates: (i) that there is progressive loss of chromosomally-abnormal embryos during preimplantation development; and (ii) that there is an association between chromosomal abnormality and embryo morphology.

Adult↗
PubMed2004

Dicentric (19;21)(p13;p13), a novel chromosomal abnormality occurring in a case of Philadelphia chromosome-positive acute lymphoblastic leukemia.

We report on a patient with Philadelphia chromosome-positive acute lymphoblastic leukemia, who acquired a novel chromosomal abnormality, a dic(19;21)(p13;p13), during relapse of the disease. The cytogenetic result was confirmed by fluorescence in situ hybridization using alpha-satellite and library probes specific for chromosomes 19 and 21, respectively, as well as a chromosome 19q13.1-specific DNA probe. In our case, the dic(19;21) represents a secondary genetic change and was associated with disease progression and poor prognosis.

Adult↗
PubMed2002

Numerical chromosomal abnormality in gastric MALT lymphoma and diffuse large B-cell lymphoma.

BACKGROUND: We investigated numerical chromosomal abnormalities, using the fluorescence in situ hybridization (FISH) method, in gastric mucosa-associated lymphoid tissue (MALT) lymphoma and diffuse large B-cell lymphoma (DLBL). We also compared the histopathological findings, including the presence or absence of Helicobacter pylori infection, with the analytical results. METHODS: Sixteen patients who underwent operation for malignant gastric lymphoma in our department were divided into three groups: patients with low-grade gastric MALT lymphoma (l-MALT; n = 5), those with high-grade gastric MALT lymphoma (h-MALT; n = 8), and those with DLBL (n = 3). Numerical abnormalities of chromosomes 8, 9, 12, and 17 were investigated by the FISH method, and the presence or absence of H. pylori infection was microscopically examined. RESULTS: Numerical abnormality was observed in chromosome 12 in 11 patients (68.8%), in chromosome 8 in 10 (62.5%), and in chromosome 17 in 5 (31.3%), showing a high frequency. H. pylori infection was detected in 80% and 50% of patients with l-MALT and h-MALT, respectively, but no H. pylori infection was observed in patients with DLBL. CONCLUSIONS: A new biological characteristic of gastric MALT lymphoma was obtained, i.e., a high frequency of numerical abnormalities of chromosomes 12, 8, and 17. There was no correlation between the numerical chromosomal abnormalities and the clinicopathological findings.

Adult↗
PubMed2004

Parental decisions following the prenatal diagnosis of sex chromosome abnormalities.

OBJECTIVE: To report parental decisions regarding pregnancy termination following the prenatal diagnosis of a sex chromosome abnormality (SCA) in the fetus. METHODS: Retrospective collection of data from records of 61 families receiving genetic counseling after prenatal diagnosis of a sex chromosome abnormality in the fetus in the Division of Medical Genetics, University Hospital of Geneva during the time period 1980-2001. RESULTS: Among 61 couples with a prenatal diagnosis of a sex chromosome abnormality (SCA), 44 couples (72.1%) decided to terminate pregnancy. Pregnancy termination rates were 100, 73.9, 70, 50 and 42.9% for Turner syndrome, Klinefelter syndrome, 47,XXX females, 47,XYY males, and mosaic cases, respectively. In all 11 cases with a fetal abnormality seen on ultrasound, pregnancy was terminated. Termination rates were higher among couples with a higher mean number of previous children. Maternal age and year of test did not influence parental decisions. CONCLUSIONS: Parental decision to terminate a pregnancy for a fetus with a SCA varied by type of sex chromosome abnormality, by presence of fetal ultrasound anomalies, and by the mean number of previous children.

Abortion, Induced↗