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At least 937 records · Page 52Linked to original sources
PubMed1977

Dermatoglyphic differences between 45,X and other chromosomal abnormalities of Turner syndrome.

The dermatoglyphic findings in 87 patients with Turner syndrome are summarized. Comparisons are made between the 50 cases with 45,X karyotypes and the remaining 37 with different chromosomal abnormalities including 19 patients with an X long arm isochromosome cell line. The results indicate differences between the 45,X patients and the other chromosomal types which are in the same direction as the changes reported between Turner syndrome and normal controls.

Adolescent↗
PubMedDate not supplied

Chromosomal abnormalities in angio-immunoblastic lymphadenopathy.

Chromosomal studies have been performed in 2 patients with angio-immunoblastic lymphadenopathy. In both the cases the presence of abnormal cell lines characterized by marker chromosomes has been detected. Application of banding techniques allowed to detect the structural composition of the marker chromosome in 1 of the cases and to show a clonal evolutive pattern of the rearranged chromosomal set; In the same patient a consistent Y loss observed in the major fraction of the investigated metaphases did not appear to be related to any defined rearrangement of the karyotype. Longitudinal chromosomal studies are stressed in order to better correlate th cytogenetic abnormalities and the immunoreactive picture of the lymph nodes along the course of the disease.

Antibody Formation↗
PubMed2001

Identifying sex chromosome abnormalities in forensic DNA testing using amelogenin and sex chromosome short tandem repeats.

Forensic DNA laboratories worldwide have begun using multiplexed STR systems to decrease analysis time and increase sample throughput. The loci used in these systems are basically "nonsense" regions of human DNA. However, due to the chromosome on which some of these loci are located, various genetic abnormalities can sometimes be detected. This paper will show one such abnormality--Klinefelter's Syndrome--and the process used to show the possibility of this defect in two undiagnosed males using peak height ratios at the Amelogenin locus, and X-Y STRs.

Amelogenin↗
PubMed1989

Acquisition of additional primary chromosome abnormalities in the course of karyotype evolution in a case of FAB-M2 acute leukemia.

Cytogenetic studies of bone marrow metaphases from a 17-year-old woman with acute myeloid leukemia revealed a leukemic clone characterized by the t(8;21)(q22;q22) characteristic of FAB-M2. The patient was treated and achieved transient remissions. On relapse, her leukemic clone had acquired, in addition to the t(8;21), the inv(16)(p13q22) characteristic of FAB-M4Eo and a 5q- of the type seen in various acute myeloid leukemias and myelodysplastic syndromes. This cell line persisted throughout the remainder of the patient's clinical course. There were no other clonal chromosome abnormalities observed. The observation of multiple chromosome mutations, usually regarded separately as primary, in a single leukemic clone is most unusual and raises questions about our concepts of the nature of primary acquired chromosome mutations in cancer.

Adolescent↗
PubMed1991

First-trimester screening for fetal chromosomal abnormalities. Preliminary results. Dutch Working Party on Prenatal Diagnosis.

We have started a multicentre trial to study the possibilities of first-trimester maternal serum screening for fetal chromosomal abnormalities. Maternal blood samples were obtained before 13 weeks of gestation. We present the preliminary results of the first 950 patients on alpha-fetoprotein (AFP). Results on cancer antigen 125 (CA 125) in Down's syndrome and normal pregnancies are also presented. We conclude that the results on AFP are promising and that CA 125 might be predictive for fetal Down's syndrome.

Antigens, Tumor-Associated, Carbohydrate↗
PubMed1996

Molecular diagnosis and clinical relevance of t(9;22), t(4;11) and t(1 ;19) chromosome abnormalities in a consecutive group of 141 adult patients with acute lymphoblastic leukemia.

Over a time period of five years leukemic blast samples from 141 consecutive patients with adult ALL were referred to our laboratory, for molecular evaluation of chromosome abnormalities. The t(9;22), t(4;11) and t(1;19) which are most commonly found in adult ALL with a B-precursor phenotype were molecularly analyzed by similar RT-PCR based protocols. BCR-ABL transcripts generated by the t(9;22) translocation were demonstrated in 36 patients (25%) and were restricted to the 109 patients with B precursor ALL (33% of this group). Of 83 patients showing a, common phenotype (CD10+), 34 were BCR-ABL positive (41%) whereas only 2 out of 26 with Null ALL (HLADr+, CD19+, CD10) were positive. Interestingly, the percent of BCR-ABL positive CD1O+ ALL increases significantly with age being 20% in patients less than 30 years old and more than 50% in older patients. None of the T-ALL (24 patients) and B-ALL (8 patients) were positive. The majority of cases (67%) showed the p190 gene subtype. The cytogenetic diagnosis of Philadelphia chromosome was always confirmed by the molecular analysis and this approach allowed for the detection of the presence of the BCR-ABL rearrangement in 26 patients when a negative result or no metaphases were obtained. The complete remission rate was similar among BCR-ABL positive and negative patients but a shorter remission duration was observed in those showing molecular evidence of t(9;22) and this finding was significantly evident in CD1O+ ALL patients. By means of comparison, in most of the same adult ALL patients, we analyzed the yet unrecognized prevalence of the t(4;11) and t(1;19) translocations by the molecular analysis of their chromosomal breakpoints. Rearrangements of the ALL-1 gene on 11q23 band and ALL- l1AF.4 fusion transcripts specific for the t(4;11) were demonstrated in 7 out of the 21 Null ALL investigated, with no additional positive cases found among the other ALL subgroups. Overall the clinical behavior of t(4; 11) positive patients was dismal with a very short CR duration. Chimeric E2A-PBX1 transcripts generated by the t(1;19) were found in only two of the 87 B-precursor ALL analyzed. The presented results provide further evidence for the utility of RT-PCR based methods for the molecular diagnosis of chromosome translocations in ALL. The identification of such abnormalities can significantly contribute to the identification of more appropriate therapeutic options for standard and high risk ALL patients

Adolescent↗
PubMed1981

[Chromosome abnormalities in bone marrow cells and peripheral lymphocytes in a patient with Fanconi's anemia].

In direct preparations of bone marrow cells from an 18 years old patient with Fanconi's anaemia (FA) a low frequency of structural chromosome aberrations was observed (4% excluding gaps), while in cultured bone marrow cells (48 hours) and in cultured peripheral lymphocytes such aberrations were found to be about 3 times as many. The increase of chromosome abnormalities "in vitro" is discussed and the most recent observations on possible factors determining susceptibility to chromosome breakage in cases with FA are taken into account.

Adolescent↗
PubMed1998

Chromosomal abnormalities and tumor development: from genes to therapeutic mechanisms.

This article highlights the recent advances in our understanding of the molecular structure and function of proteins that are activated or created by chromosomal abnormalities and discusses their possible role in tumor development. The molecular characterization of these proteins has revealed that tumor-specific fusion proteins are the consequence of the majority of chromosomal translocations associated with leukemias and solid tumors. A common theme that emerges is that creation of these proteins disrupts the normal development of tumor-specific target cells by blocking apoptosis. These insights identify these chromosomal translocation-associated genes as potential targets for improved cancer therapies.

Apoptosis↗
PubMed1987

Amniotic fluid alpha-fetoprotein levels and fetal chromosomal abnormalities.

406 midtrimester amniotic fluid samples were examined for alpha-fetoprotein (AFP) levels and fetal karyotyping. 44 cases with Down syndrome, 12 with Klinefelter syndrome and 14 with other chromosomal abnormalities were diagnosed. The AFP levels were below the median value for the normal pregnancies in 38 of the 44 Down syndrome-affected fetuses. The mean AFP value was significantly lower (p less than 0.0001) in this group. No such difference was found for fetuses affected by Klinefelter syndrome or other chromosomal aberrations. Almost all of the values for the Down syndrome-affected fetuses were, however, within the normal range, thereby precluding the possibility of using this measurement as an alternative to fetal karyotyping as a screening test for Down syndrome.

Amniotic Fluid↗
PubMedDate not supplied

Childhood leukemia: Understanding the significance of chromosomal abnormalities.

The survival for children with acute lymphoblastic leukemia (ALL) has increased from 3% to greater than 70% in the last 30 years, with some patients achieving 95% survival. These advances have been made not only because therapy has improved, but also because there is a much greater understanding of the diversity of ALL. The identification of clinical and biological prognostic factors associated with ALL has resulted in the formation of subsets of patients classified into risk groups. Although age, initial white blood cell count, and central nervous system or testicular disease are all important prognostic factors, cytogenetic abnormalities have now emerged as the single most important prognostic factor for children with ALL. There are specific cytogenetic findings in the leukemic blast cells of these children that influence their prognosis. Some of these findings are positive factors and some adverse. Treatment protocols for ALL today are now determined by these specific chromosomal abnormalities.

Child↗
PubMed1992

Phenotypical characteristics of acute myelocytic leukemia associated with the t(8;21)(q22;q22) chromosomal abnormality: frequent expression of immature B-cell antigen CD19 together with stem cell antigen CD34.

Twenty-three acute myelocytic leukemia (AML) patients with t(8;21) chromosomal abnormality, all classified as M2 (French-American-British [FAB] classification), were investigated. Blastic cells from all patients were positive for the stem cell-associated antigens, CD34 and HLA-DR, and the immature myeloid antigens, CD13 and CD33. The nonblastic leukemic cells expressed the more mature myeloid antigens, CD11b and CD15, with loss of the immature phenotype. The incidence of positivities for the stem cell-associated antigens, CD34 and HLA-DR, in t(8;21) AML cells was significantly higher in comparison with those in other AML showing granulocytic differentiation (M2 or M3). AML cells with t(8;21) also showed some phenotypic abnormalities. Frequent expression of CD19 was found in the blastic population of t(8;21) AML (18 of 23 cases) without other B-cell antigens and Ig gene rearrangements. CD19 expression was confirmed by immunocytochemistry and Northern blotting. The CD19+ blastic cells coexpressed both CD34 and HLA-DR. In addition, CD33+ cells among the blastic fraction in t(8;21) AML cells were fewer in number than in those of M2 or M3 AML without t(8;21). Our findings indicate that leukemic blasts of t(8;21) AML commonly express CD19 while preserving the stem cell-associated antigens, and differentiate into the granulocytic pathway with discordant maturation such as low CD33 expression.

Adult↗
PubMed2005

Ultrasound soft markers of chromosomal abnormalities; an ethical dilemma for obstetricians.

With high-resolution ultrasound, it is possible to examine fetal anatomy in great detail. Soft markers promise to be useful in screening for chromosomal abnormalities when considered alongside maternal age, but the premature introduction of soft markers into routine fetal screening might have caused physical or psychological harm to an unknown number of expectant parents and unborn children.

Biomarkers↗
PubMed1982

Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20 000 prenatal studies compared with estimated rates in live births.

Data were analyzed on the results of 19675 prenatal cytogenetic diagnoses reported to two chromosome registries on women aged 35 or over for whom there was no known cytogenetic risk for a chromosome abnormality except parental age. The expected rates at amniocentesis of 47, + 21; 47, + 18; 47, + 13; XXX; XXY; XYY; and other clinically significant cytogenetic defects by maternal age were obtained from a regression analysis on the observed rates, using a first degree exponential model. After an adjustment for maternal age, these rates were compared with previously estimated rates by maternal age in live births. The rates of 47, + 21 at amniocentesis and live birth are approximately parallel, with the latter about 80% of the amniocentesis rates. The rates of 47, + 18 at amniocentesis and live birth are approximately parallel, with the live birth rates about 30% of the amniocentesis rates, consistent with high fetal mortality of 47, + 18 after amniocentesis. The rates of 47, + 13 at amniocentesis indicate an increase in maternal age that is not as marked as that previously estimated in live births. The rates at amniocentesis for XXX and XXY increase with maternal age, with the rates of XXY almost identical to those estimated previously in live births, suggesting no late fetal mortality of XXY. The rates of XYY show a slight decrease with maternal age also consistent with little late fetal mortality of XYY. No consistent trend with age is seen for the pooled group of other clinically significant defects.

Adult↗
PubMedDate not supplied

Ethanol-induced chromosomal abnormalities at conception.

Preliminary findings have indicated that mouse eggs exposed briefly in vivo or in vitro to a dilute solution of ethanol activate parthenogenetically. Cytogenetic analysis of the first-cleavage chromosomes of haploid parthenogenetic embryos indicated that up to 20% of this population were aneuploid as a result of non-disjunction. Anaesthetics also can induce parthenogenesis of rodent eggs, and in studies using anaesthetics, colchicine and colcemid, abnormal chromosome segregation and heteroploidy of rodent embryos have been observed. I now report that when recently mated female mice are given a dilute solution of ethanol by mouth, non-disjunction can be induced in the female-derived, but apparently not in the male-derived, chromosome set of fertilized eggs. Taken together, these findings suggest that ethanol consumption (as well as exposure to other 'spindle-acting' agents) at the time of conception may be the cause of certain types of chromosomal defects commonly observed in human spontaneous abortions.

Abortion, Spontaneous↗
PubMed1978

Neoplastic behavior of chromosomally abnormal clones in New Zealand Black mice.

Old New Zealand Black (NZB) mice frequently develop reticulum-cell sarcoma and clones of aneuploid cells in their spleens. In order to define the relationship between neoplasms and chromosomal abnormalities, the pattern of distribution of aneuploid cells was studied to see if it corresponds to that expected of the malignancy, and chromosomally aberrant or normal spleen cells were transplanted into syngeneic newborn recipients. The results indicate that aneuploid cells arise focally but may disseminate widely in an affected mouse. A strong association was found between spleen-cell aneuploidy in a transplantation donor and both aneuploidy and histological evidence of reticulum-cell sarcoma in young recipients. Chromosomal aberrations in young recipients were always of donor origin. On the basis of these data, it seems likely that aneuploid clones which arise in the spleens of old NZB mice usually are at least potentially neoplastic.

Aneuploidy↗
PubMed1996

Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion of chromosome 8. Each child had mild developmental delay and subtle minor anomalies. Two had cardiac anomalies but no other major congenital anomalies were present. High resolution G and R banding showed in all three patients del(8)(p23.1), but the breakpoint in case 1 was distal to 8p23.1, in case 2 was in the middle of 8p23.1, and in case 3 proximal to 8p23.1. Fluorescence in situ hybridization (FISH) studies with a chromosome 8 paint probe confirmed that no other rearrangement had occurred. FISH with a chromosome 8-specific telomere probe indicated that two patients had terminal deletions. Chromosome analysis of the parents of case 1 and mother of case 2 were normal; the remaining parents were not available for study. Thirteen individual patients including the three in this study, and three relatives in one family with del(8)(p23.1), have been reported in the past 5 years. Major congenital anomalies, especially congenital heart defects, are most often associated with a breakpoint proximal to 8p23.1. Three patients were found within a 3-year period in this study and five cases were found within 4 years by another group, indicating that distal 8p deletion might be a relatively common chromosomal abnormality. This small deletion is easily overlooked (i.e., cases 1 and 2 were reported as normal at amniocentesis) and can be associated with few or no major congenital anomalies.

Adult↗
PubMed1988

Increase in copy number of N-myc in retinoblastomas in comparison with chromosome abnormality.

N-myc oncogene amplification was studied in tumor tissue DNA from Japanese retinoblastoma patients, taking into consideration their uni- or bilateral disease form, their family history, and any chromosome abnormalities. Of the 23 cases examined, seven (30%) showed a 1.9- to 2.3-fold amplification of N-myc. No correlation was found between N-myc amplification and either tumor form or family history. Two of three cases having double minute bodies in their tumors showed N-myc amplification. In two tumors with 13q deletions, one produced in the host with constitutional 13q--abnormality showed no N-myc amplification, and the other one produced in the host with normal karyotype showed an N-myc amplification. These results indicate N-myc amplification is independent of the known genetic background in retinoblastoma patients.

Child↗