Chromosome Aberrations

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  Subject Areas on Research

  • A classification for genetic disorders of interest to orthopaedists. 
  • A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. 
  • A further case of choanal atresia in the deletion (9p) syndrome. 
  • A marker chromosome abnormality. Occurrence in chloramphenicol-associated acute leukemia. 
  • A novel chromosomal rearrangement associated with therapy-related acute leukemia. 
  • A novel human cancer culture model for the study of prostate cancer. 
  • A preliminary investigation of the parallelogram concept in genetic monitoring and risk estimation. 
  • A recombinational portrait of the Drosophila pseudoobscura genome. 
  • A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study. 
  • A single tube, four-color flow cytometry assay for evaluation of ZAP-70 and CD38 expression in chronic lymphocytic leukemia. 
  • A telomerase-immortalized primary human prostate cancer clonal cell line with neoplastic phenotypes. 
  • A test of the chromosomal rearrangement model of speciation in Drosophila pseudoobscura. 
  • ATR functions as a gene dosage-dependent tumor suppressor on a mismatch repair-deficient background. 
  • Acquired genomic copy number aberrations and survival in adult acute myelogenous leukemia. 
  • Adult patients with de novo acute myeloid leukemia and t(9; 11)(p22; q23) have a superior outcome to patients with other translocations involving band 11q23: a cancer and leukemia group B study. 
  • Alterations of the TP53 gene in human gliomas. 
  • An approach to analysis of large-scale correlations between genome changes and clinical endpoints in ovarian cancer. 
  • An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. 
  • Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy. 
  • Analysis of genetic alterations in uterine leiomyomas and leiomyosarcomas by comparative genomic hybridization. 
  • Apoptotic DNA fragmentation factor maintains chromosome stability in a P53-independent manner. 
  • Application of FISH to complex chromosomal rearrangements associated with chronic myelogenous leukemia. 
  • Array CGH profiling of favourable histology Wilms tumours reveals novel gains and losses associated with relapse. 
  • Array comparative genomic hybridisation (aCGH) analysis of premenopausal breast cancers from a nuclear fallout area and matched cases from Western New York. 
  • Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians. 
  • Autistic symptoms among children and young adults with isodicentric chromosome 15. 
  • Benzo(a)pyrene diol epoxide-induced chromosomal aberrations and risk of lung cancer. 
  • Best cases from the AFIP: Adamantinoma of the tibia and fibula with cytogenetic analysis. 
  • Biphasic malignant meningioma: a comparative genomic hybridization study. 
  • Body weight is not always a good predictor of longevity in mice. 
  • Brain tumors in man and animals: report of a workshop. 
  • Breast cancer screening-individualized risk assessment and application of new research technology: non-protein bound estradiol and chromosome analysis. 
  • Cancer risk in children and adolescents with birth defects: a population-based cohort study. 
  • Cardiovascular malformations: changes in prevalence and birth status, 1972-1990. 
  • Cell-free DNA analysis for noninvasive examination of trisomy. 
  • Cellular Blue Nevomelanocytic Lesions: Analysis of Clinical, Histological, and Outcome Data in 37 Cases. 
  • Cellular and molecular studies in brain and nervous system oncology. 
  • Characterization of chromosome 17 abnormalities in medulloblastomas. 
  • Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. 
  • Characterization of gains, losses, and regional amplification in testicular germ cell tumor cell lines by comparative genomic hybridization. 
  • Characterization of sporadic colon cancer by patterns of genomic instability. 
  • Characterization of the mouse transforming growth factor alpha gene: its expression during eyelid development and in waved 1 tissues. 
  • Choanal atresia and associated anomalies. 
  • Choanal atresia in a patient with the deletion (9p) syndrome. 
  • Chromium(III) picolinate produces chromosome damage in Chinese hamster ovary cells. 
  • Chromosomal aberrations of primary lung adenocarcinomas in nonsmokers. 
  • Chromosomal abnormalities and molecular genetics of non-Hodgkin's lymphoma. 
  • Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 
  • Chromosomal characteristics of childhood brain tumors. 
  • Chromosomal comparative genomic hybridization abnormalities in early- and late-onset human breast cancers: correlation with disease progression and TP53 mutations. 
  • Chromosomal composition of four permanent cultured cell lines derived from human gliomas. 
  • Chromosomal composition of malignant human gliomas through serial subcutaneous transplantation in athymic mice. 
  • Chromosomal evolution in malignant human gliomas starts with specific and usually numerical deviations. 
  • Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases: the Deborah Iverson, MD, Lectureship. 
  • Chromosome aberrations resulting from double-strand DNA breaks at a naturally occurring yeast fragile site composed of inverted ty elements are independent of Mre11p and Sae2p. 
  • Chromosome breakage in Drosophila melanogaster induced by a monofunctional alkylating agent (EMS). 
  • Chromosome breakpoint at 17q11.2 and insertion of DNA from three different chromosomes in a glioblastoma with exceptional glial fibrillary acidic protein expression. 
  • Chromosome end-to-end associations and telomerase activity during cancer progression in human cells after treatment with alpha-particles simulating radon progeny. 
  • Chronic Lymphocytic Leukemia With Two B-Cell Populations of Discordant Light Chain Restrictions in Individual Patients: Parallel Development of Biclonal B-Cell Neoplasms or Clonal Evolution With Isotype Switch? 
  • Chronic myelogenous leukemia. 
  • Chronic oxidative DNA damage due to DNA repair defects causes chromosomal instability in Saccharomyces cerevisiae. 
  • Cigarette smoking and risk of acute leukemia: associations with morphology and cytogenetic abnormalities in bone marrow. 
  • Clastogenicity of lead chromate particles in hamster and human cells. 
  • Clinical application of array-based comparative genomic hybridization to define the relationship between multiple synchronous tumors. 
  • Clinicopathologic and cytogenic features of CD34 (My 10)-positive acute nonlymphocytic leukemia. 
  • Clinicopathologic and genetic spectrum of infantile B-lymphoblastic leukemia: a multi-institutional study. 
  • Clinicopathologic features and outcomes of lymphoplasmacytic lymphoma patients with monoclonal IgG or IgA paraprotein expression. 
  • Clonal evolution in t(14;18)-positive follicular lymphoma, evidence for multiple common pathways, and frequent parallel clonal evolution. 
  • Clonality of lobular carcinoma in situ and synchronous invasive lobular carcinoma. 
  • Combined effect of chemopreventive agent N-(4-hydroxyphenyl) retinamide (4-HPR) and gamma-radiation on bladder cancer cell lines. 
  • Comments on 'Cytogenetic effects in children treated with methylphenidate' by El-Zein et al. 
  • Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. 
  • Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. 
  • Comprehensive biomarker and genomic analysis identifies p53 status as the major determinant of response to MDM2 inhibitors in chronic lymphocytic leukemia. 
  • Comprehensive molecular cytogenetic investigation of chromosomal abnormalities in human medulloblastoma cell lines and xenograft. 
  • Conditional dicentric chromosomes in yeast. 
  • Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. 
  • Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. 
  • Correlation between selected environmental exposures and karyotype in acute myelocytic leukemia. 
  • Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. 
  • Cytogenetic changes induced by 1-(N1-methylhydrazinomethyl)-N-isopropyl benzamide in Ehrlich ascites tumor cells. 
  • Cytogenetic studies and their clinical correlates in adults with acute leukemia. 
  • Cytogenetics and mechanisms of spontaneous abortions: increased apoptosis and decreased cell proliferation in chromosomally abnormal villi. 
  • Cytogenetics of human brain tumors. 
  • DNA damage induced by carcinogenic lead chromate particles in cultured mammalian cells. 
  • De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay. 
  • Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. 
  • Detectable clonal mosaicism from birth to old age and its relationship to cancer. 
  • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 
  • Diagnosis and Treatment of Patients With Acute Myeloid Leukemia With Myelodysplasia-Related Changes (AML-MRC). 
  • Diagnosis and management of myeloproliferative disorders. 
  • Differential gene expression patterns in HER2/neu-positive and -negative breast cancer cell lines and tissues. 
  • Differential replication of ribosomal gene repeats in polytene nuclei of Drosophila. 
  • Disposition of sperm donors with resultant abnormal pregnancies. 
  • Distinct patterns of 1p and 19q alterations identify subtypes of human gliomas that have different prognoses. 
  • Donor cell-derived leukemias/myelodysplastic neoplasms in allogeneic hematopoietic stem cell transplant recipients: a clinicopathologic study of 10 cases and a comprehensive review of the literature. 
  • Dose-dependent effect of melatonin on life span and spontaneous tumor incidence in female SHR mice. 
  • Double IGHV DNA gene rearrangements in CLL: influence of mixed-mutated and -unmutated rearrangements on outcomes in CLL. 
  • Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group. 
  • Ductal epithelial proliferations of the breast: a biological continuum? Comparative genomic hybridization and high-molecular-weight cytokeratin expression patterns. 
  • Effect of Epitalon on biomarkers of aging, life span and spontaneous tumor incidence in female Swiss-derived SHR mice. 
  • Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. 
  • Familial supernumerary marker chromosome evolution through three generations. 
  • Fetal echocardiography and fetal cardiology: indications, diagnosis and management. 
  • Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 
  • Fractionated total-body irradiation and high-dose etoposide as a preparatory regimen for bone marrow transplantation for 94 patients with chronic myelogenous leukemia in chronic phase. 
  • Fragments of ATM which have dominant-negative or complementing activity. 
  • Gender difference in smoking effect on chromosome sensitivity to gamma radiation in a healthy population. 
  • Genetic studies in autistic disorder and chromosome 15. 
  • Genetic studies in neural tube defects. NTD Collaborative Group. 
  • Genetics of disease The sex chromosomes and human disease. 
  • Genome rearrangements caused by interstitial telomeric sequences in yeast. 
  • Genome wide analysis and clinical correlation of chromosomal and transcriptional mutations in cancers of the biliary tract. 
  • Genome-wide high-resolution mapping of chromosome fragile sites in Saccharomyces cerevisiae. 
  • Genomic and Functional Approaches to Understanding Cancer Aneuploidy. 
  • Genomic instability and endoreduplication triggered by RAD17 deletion. 
  • Genomic lesions associated with a different clinical outcome in diffuse large B-Cell lymphoma treated with R-CHOP-21. 
  • Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 
  • Germ cell aneuploidy in zebrafish with mutations in the mitotic checkpoint gene mps1. 
  • Global search for chromosomal abnormalities in infiltrating ductal carcinoma of the breast using array-comparative genomic hybridization. 
  • Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology. 
  • Heterotransplantation of a human prostatic adenocarcinoma cell line in nude mice. 
  • High rates of "unselected" aneuploidy and chromosome rearrangements in tel1 mec1 haploid yeast strains. 
  • High resolution analysis of genomic aberrations by metaphase and array comparative genomic hybridization identifies candidate tumour genes in lung cancer cell lines. 
  • Human centromere repositioning within euchromatin after partial chromosome deletion. 
  • Human embryos derived from in vitro and in vivo matured oocytes: analysis for chromosomal abnormalities and nuclear morphology. 
  • Hypodiploidy is associated with a poor prognosis in childhood acute lymphoblastic leukemia. 
  • Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. 
  • Identification of genetic defect of an epilepsy: strategies for therapeutic advances. 
  • Impact of cytogenetic abnormalities on outcomes of adult Philadelphia-negative acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation: a study by the Acute Leukemia Working Committee of the Center for International Blood and Marrow Transplant Research. 
  • Impact of cytogenetic abnormalities on outcomes of adult Philadelphia-negative acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation: a study by the Acute Leukemia Working Committee of the Center for International Blood and Marrow Transplant Research. 
  • Importance of bone marrow cytogenetic evaluation before autologous bone marrow transplantation for Hodgkin's disease. 
  • In vitro and in vivo genotoxicity evaluation of hormonal drugs. I. Hydrocortisone. 
  • In vitro and in vivo genotoxicity evaluation of hormonal drugs. II. Dexamethasone. 
  • In vitro benzo[a]pyrene diol epoxide-induced DNA damage and chromosomal aberrations in primary lymphocytes, smoking, and risk of squamous cell carcinoma of the head and neck. 
  • Increased chromosomal instability in peripheral lymphocytes and risk of human gliomas. 
  • Induction of micronuclei by X-radiation in human, mouse and rat peripheral blood lymphocytes. 
  • Integrated genomic characterization of endometrial carcinoma. 
  • Inter-genomic cross talk between mitochondria and the nucleus plays an important role in tumorigenesis. 
  • International Commission for Protection Against Environmental Mutagens and Carcinogens. Mutagenicity and carcinogenicity of topoisomerase-interactive agents. 
  • Inverted DNA repeats channel repair of distant double-strand breaks into chromatid fusions and chromosomal rearrangements. 
  • Isolation of a human prostate carcinoma cell line (DU 145). 
  • Lineage Switch Between B-Lymphoblastic Leukemia and Acute Myeloid Leukemia Intermediated by "Occult" Myelodysplastic Neoplasm: Two Cases of Adult Patients With Evidence of Genomic Instability and Clonal Selection by Chemotherapy. 
  • Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. 
  • Long-term cellular effects in humans chronically exposed to ionizing radiation. 
  • Loss of chromosomes 22 and 14 in the malignant progression of meningiomas. A comparative study of fluorescence in situ hybridization (FISH) and standard cytogenetic analysis. 
  • Malignant transformation of ovarian epithelium. 
  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 
  • Meiosis-specific double-strand DNA breaks at the HIS4 recombination hot spot in the yeast Saccharomyces cerevisiae: control in cis and trans. 
  • Meiotic crossing over between nonhomologous chromosomes affects chromosome segregation in yeast. 
  • Methylphenidate and amphetamine do not induce cytogenetic damage in lymphocytes of children with ADHD. 
  • Molecular alternations in uveal melanoma. 
  • Molecular analysis of genetic instability caused by chronic inflammation. 
  • Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. 
  • Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. 
  • Molecular genetics and histopathologic features of adult distal nephron tumors. 
  • Molecular genetics: toward an understanding of childhood cancer. 
  • Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. 
  • Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). 
  • Multiple distinct clones may co-exist in different lineages in myelodysplastic syndromes. 
  • Mutagen sensitivity and risk of gliomas: a case-control analysis. 
  • Mutagen sensitivity in upper aerodigestive tract cancer: a case-control analysis. 
  • Mutagen sensitivity to benzo(a)pyrene diol epoxide and the risk of squamous cell carcinoma of the head and neck. 
  • Mutants of the Drosophila ncd microtubule motor protein cause centrosomal and spindle pole defects in mitosis. 
  • Myeloid neoplasms in the setting of sickle cell disease: an intrinsic association with the underlying condition rather than a coincidence; report of 4 cases and review of the literature. 
  • Myeloid neoplasms secondary to plasma cell myeloma: an intrinsic predisposition or therapy-related phenomenon? A clinicopathologic study of 41 cases and correlation of cytogenetic features with treatment regimens. 
  • Objective measurements for grading the primary unilateral cleft lip nasal deformity. 
  • Overlapping high-resolution copy number alterations in cancer genomes identified putative cancer genes in hepatocellular carcinoma. 
  • Partial duplication of 4q12q13 leads to a mild phenotype. 
  • Patterns of chromosomal alterations in breast ductal carcinoma in situ. 
  • Patterns of the early, gross chromosomal changes in malignant human gliomas. 
  • Philadelphia chromosome mosaicism at diagnosis in chronic myeloid leukemia: clinical correlates and effect on imatinib mesylate treatment outcome. 
  • Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway. 
  • Possible cellular and molecular mechanisms for asbestos carcinogenicity. 
  • Prediction of clinical outcome in multiple lung cancer cohorts by integrative genomics: implications for chemotherapy selection. 
  • Prenatal diagnosis: essentials for the pediatric surgeon. 
  • Presence of clonal chromosome abnormalities in virtually all cases of acute lymphoblastic leukemia. 
  • Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). 
  • Primary mediastinal (thymic) large B-cell lymphoma: a short review with brief discussion of mediastinal gray zone lymphoma. 
  • Prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): a Cancer and Leukemia Group B study. 
  • Pseudo-Pelger-Huët anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome-related pseudo-Pelger-Huët anomaly. 
  • Radiation-induced genomic instability: radiation quality and dose response. 
  • Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. 
  • Rationale and design of Total Therapy Study XV for newly diagnosed childhood acute lymphoblastic leukemia. 
  • Regression of uveal melanoma after plaque radiotherapy and thermotherapy based on chromosome 3 status. 
  • Regulation of genome stability by TEL1 and MEC1, yeast homologs of the mammalian ATM and ATR genes. 
  • Relationship between gene amplification and chromosomal deviations in malignant human gliomas. 
  • Relevance and safety of telomerase for human tissue engineering. 
  • Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000. 
  • Report and abstracts of the third international workshop on human chromosome 1 mapping 1997. 
  • Report of the fifth international workshop on human chromosome 1 mapping 1999. 
  • Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. 
  • Ring chromosomes and rDNA magnification in Drosophila. 
  • Risk assessment for developing gliomas: a comparison of two cytogenetic approaches. 
  • Role of transforming growth factor-beta superfamily signaling pathways in human disease. 
  • Second-site noncomplementation identifies genomic regions required for Drosophila nonmuscle myosin function during morphogenesis. 
  • Secondary acute myeloid leukemia in children treated for acute lymphoid leukemia. 
  • Secondary myelodysplasia and acute leukemia in breast cancer patients after autologous bone marrow transplant. 
  • Sensitivity to benzo(a)pyrene diol-epoxide associated with risk of breast cancer in young women and modulation by glutathione S-transferase polymorphisms: a case-control study. 
  • Shuffling the yeast genome using CRISPR/Cas9-generated DSBs that target the transposable Ty1 elements. 
  • Simultaneous presence of major secondary chromosomal abnormalities in blast crisis of chronic myeloid leukemia. 
  • Single-cell analysis reveals oligoclonality among 'low-count' monoclonal B-cell lymphocytosis. 
  • Specific chromosomal abnormalities characterize four established cell lines derived from malignant human gliomas. 
  • Specific chromosomal abnormalities in malignant human gliomas. 
  • Specific keynote: genome copy number abnormalities in ovarian cancer. 
  • Stable dicentric X chromosomes with two functional centromeres. 
  • Structural chromosomal abnormalities in human medulloblastoma. 
  • Systematic gene mapping in man: data management considerations. 
  • Systemic mastocytosis in a child with t(8;21) acute myeloid leukemia. 
  • Targeted long-read sequencing identifies missing disease-causing variation. 
  • The Transient Inactivation of the Master Cell Cycle Phosphatase Cdc14 Causes Genomic Instability in Diploid Cells of Saccharomyces cerevisiae. 
  • The association of aneuploidy and unexplained elevated maternal serum alpha-fetoprotein. 
  • The case of the gray optic disc! 
  • The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. 
  • The genomics of speciation in Drosophila: diversity, divergence, and introgression estimated using low-coverage genome sequencing. 
  • The normal and neoplastic perineurium: a review. 
  • The persistence of lymphocytes with dicentric chromosomes following whole-body X irradiation of mice. 
  • The role of EVI1 in myeloid malignancies. 
  • The use of chromosomal microarray for prenatal diagnosis. 
  • Three probands with autistic disorder and isodicentric chromosome 15. 
  • Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q. 
  • Unique chromosomal rearrangement and mucin production in a novel salivary myoepithelial cell strain. 
  • Update on late relapse of germ cell tumor: a clinical and molecular analysis. 
  • Utility of EGFR and PTEN numerical aberrations in the evaluation of diffusely infiltrating astrocytomas. Laboratory investigation. 
  • Whole thorax irradiation of non-human primates induces persistent nuclear damage and gene expression changes in peripheral blood cells. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Sullivan, Beth Ann, Professor of Molecular Genetics and Microbiology, Duke Science & Society