trisomy

Summary

Summary: The possession of a third chromosome of any one type in an otherwise diploid cell.

Top Publications

  1. ncbi To err (meiotically) is human: the genesis of human aneuploidy
    T Hassold
    Department of Genetics, Case Western Reserve University, 10, 900 Euclid Avenue, Cleveland, Ohio 44106, USA
    Nat Rev Genet 2:280-91. 2001
  2. pmc DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:296-305. 2012
  3. ncbi Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
    Andrew B Sparks
    Aria Diagnostics, San Jose, CA 95138, USA
    Am J Obstet Gynecol 206:319.e1-9. 2012
  4. ncbi Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    Mary E Norton
    Department of Obstetrics and Gynecology, Stanford University Lucile Packard Children s Hospital, CA 94305, USA
    Am J Obstet Gynecol 207:137.e1-8. 2012
  5. pmc Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    Eric Z Chen
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
    PLoS ONE 6:e21791. 2011
  6. pmc Trisomy correction in Down syndrome induced pluripotent stem cells
    Li B Li
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Cell Stem Cell 11:615-9. 2012
  7. ncbi Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
    Shan Dan
    BGI Shenzhen, Shenzhen, China
    Prenat Diagn 32:1225-32. 2012
  8. ncbi Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
    Amy J Sehnert
    Verinata Health, Inc, San Carlos, CA, USA
    Clin Chem 57:1042-9. 2011
  9. ncbi Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    Ghalia Ashoor
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital, King s College, University of London, London, England, UK
    Am J Obstet Gynecol 206:322.e1-5. 2012
  10. ncbi Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis
    Ioana Claudia Lakovschek
    Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria
    Am J Med Genet A 155:2626-33. 2011

Research Grants

  1. Genome-wide recombination as a risk factor for nondisjunction
    NATASHA D HOLLIS; Fiscal Year: 2010
  2. NFAT Signaling and Down Syndrome
    Gerald R Crabtree; Fiscal Year: 2012
  3. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    Nancy M Hollingsworth; Fiscal Year: 2013
  4. Molecular Basis of Nuchal Edema
    Young Kwon Hong; Fiscal Year: 2013
  5. The Role of Cks Proteins in Mammalian Meiosis
    Charles H Spruck; Fiscal Year: 2010
  6. Translating Dosage Compensation to Trisomy
    Jeanne Bentley Lawrence; Fiscal Year: 2010
  7. Genetic conflict shapes centromeres and heterochromatin
    Harmit S Malik; Fiscal Year: 2013
  8. Human Pluripotent Stem Cell and Progenitor Models of Cardiac and Blood Diseases
    LEONARD IRA ZON; Fiscal Year: 2013
  9. GATA1 Mutation in Defective Erythropoiesis
    John D Crispino; Fiscal Year: 2013
  10. Regulation of Replication Origin Usage in Saccharomyces cerevisiae
    Bik Kwoon Tye; Fiscal Year: 2009

Detail Information

Publications367 found, 100 shown here

  1. ncbi To err (meiotically) is human: the genesis of human aneuploidy
    T Hassold
    Department of Genetics, Case Western Reserve University, 10, 900 Euclid Avenue, Cleveland, Ohio 44106, USA
    Nat Rev Genet 2:280-91. 2001
    Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans, occurring in at least 5% of all clinically recognized pregnancies...
  2. pmc DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:296-305. 2012
    To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13.
  3. ncbi Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
    Andrew B Sparks
    Aria Diagnostics, San Jose, CA 95138, USA
    Am J Obstet Gynecol 206:319.e1-9. 2012
    We sought to develop a novel biochemical assay and algorithm for the prenatal evaluation of risk for fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA obtained from maternal blood.
  4. ncbi Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    Mary E Norton
    Department of Obstetrics and Gynecology, Stanford University Lucile Packard Children s Hospital, CA 94305, USA
    Am J Obstet Gynecol 207:137.e1-8. 2012
    We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18).
  5. pmc Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    Eric Z Chen
    Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
    PLoS ONE 6:e21791. 2011
    ..in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21...
  6. pmc Trisomy correction in Down syndrome induced pluripotent stem cells
    Li B Li
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Cell Stem Cell 11:615-9. 2012
    ..Our study describes a targeted removal of a human trisomy, which could prove useful in both clinical and research applications.
  7. ncbi Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
    Shan Dan
    BGI Shenzhen, Shenzhen, China
    Prenat Diagn 32:1225-32. 2012
    To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China.
  8. ncbi Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
    Amy J Sehnert
    Verinata Health, Inc, San Carlos, CA, USA
    Clin Chem 57:1042-9. 2011
    ..Although existing algorithms focus on the detection of fetal trisomy 21 (T21), these same algorithms have difficulty detecting trisomy 18 (T18).
  9. ncbi Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    Ghalia Ashoor
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital, King s College, University of London, London, England, UK
    Am J Obstet Gynecol 206:322.e1-5. 2012
    The purpose of this study was to assess the prenatal detection rate of trisomy 21 and 18 and the false-positive rate by chromosome-selective sequencing of maternal plasma cell-free DNA.
  10. ncbi Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis
    Ioana Claudia Lakovschek
    Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria
    Am J Med Genet A 155:2626-33. 2011
    b>Trisomy 13, trisomy 18, and triploidy belong to the chromosomal abnormalities which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span...
  11. ncbi Population-based analyses of mortality in trisomy 13 and trisomy 18
    Sonja A Rasmussen
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Pediatrics 111:777-84. 2003
    Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with trisomy 13 or 18 using 2 population-based strategies.
  12. pmc Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome
    Arnaud Duchon
    Institut de Génétique Biologie Moléculaire et Cellulaire, Translational Medicine and Neuroscience Program, Universite de Strasbourg, Illkirch, France
    Mamm Genome 22:674-84. 2011
    ..The Ts65Dn model is currently used for further therapeutic assessment of candidate drugs. In both models, the trisomy was induced by reciprocal chromosomal translocations that were not further characterized...
  13. pmc Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    Andrew B Sparks
    Aria Diagnostics Inc, 5945 Optical Court, San Jose, CA 95138, USA
    Prenat Diagn 32:3-9. 2012
    To develop a novel prenatal assay based on selective analysis of cell-free DNA in maternal blood for evaluation of fetal Trisomy 21 (T21) and Trisomy 18 (T18).
  14. pmc NOTCH1 mutations in CLL associated with trisomy 12
    Veronica Balatti
    Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, USA
    Blood 119:329-31. 2012
    ..5%. Because 4 of 6 mutated samples also showed trisomy 12, we sequenced NOTCH1 in an additional 77 cases with trisomy 12 CLLs, including 47 IGVH unmutated/ZAP70(+) ..
  15. pmc Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome
    Pascal Kahlem
    Max Planck Institute for Molecular Genetics, D 14195, Berlin, Germany
    Genome Res 14:1258-67. 2004
    Human trisomy 21, which results in Down syndrome (DS), is one of the most complicated congenital genetic anomalies compatible with life, yet little is known about the molecular basis of DS...
  16. pmc Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome
    Louise E Reynolds
    Adhesion and Angiogenesis Laboratory, Barts Institute of Cancer, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK
    Nature 465:813-7. 2010
    Down's syndrome (DS) is a genetic disorder caused by full or partial trisomy of human chromosome 21 and presents with many clinical phenotypes including a reduced incidence of solid tumours...
  17. pmc Cholinergic degeneration and memory loss delayed by vitamin E in a Down syndrome mouse model
    Jason Lockrow
    Department of Neuroscience, and the Center on Aging, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425, USA
    Exp Neurol 216:278-89. 2009
    ..These deficits are replicated in the Ts65Dn mouse, which contains a partial trisomy of murine chromosome 16, the orthologous genetic segment to human chromosome 21...
  18. ncbi Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes
    L E Olson
    Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Dev Dyn 230:581-9. 2004
    ..These observations do not readily differentiate between two prevalent hypotheses for gene action in DS...
  19. pmc Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn
    Laura G Reinholdt
    The Jackson Laboratory, Genetic Resource Science, ME, 04609, USA
    Mamm Genome 22:685-91. 2011
    Ts65Dn is a mouse model of Down syndrome: a syndrome that results from chromosome (Chr) 21 trisomy and is associated with congenital defects, cognitive impairment, and ultimately Alzheimer's disease...
  20. pmc Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities
    H Sago
    Department of Pediatrics, University of California, Box 0546, San Francisco, CA 94143 0546, USA
    Proc Natl Acad Sci U S A 95:6256-61. 1998
    ..in the genetic dissection of the learning, behavioral, and neurological abnormalities associated with segmental trisomy for the region of mouse chromosome 16 homologous with the so-called "Down syndrome region" of human chromosome ..
  21. ncbi Recurrent trisomy and Robertsonian translocation of chromosome 14 in murine iPS cell lines
    Qian Chen
    Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, 230027, China
    Chromosome Res 19:857-68. 2011
    ..We have observed recurrent trisomy and/or Robertsonian translocation (Rb) of chromosome 14 in six out of nine independent miPS cell lines from three ..
  22. pmc The trisomy 18 syndrome
    Anna Cereda
    Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM A O, S, Gerardo Monza, Italy
    Orphanet J Rare Dis 7:81. 2012
    The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q...
  23. ncbi Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method
    G Ashoor
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital, London, UK
    Ultrasound Obstet Gynecol 41:21-5. 2013
    To assess the performance of chromosome-selective sequencing of maternal plasma cell-free DNA (cfDNA) in non-invasive prenatal testing for trisomy 13.
  24. ncbi Trisomy 18: experience of a reference hospital from the south of Brazil
    Rafael F M Rosa
    Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, RS, Brazil
    Am J Med Genet A 155:1529-35. 2011
    b>Trisomy 18 is a chromosomal syndrome characterized by a broad clinical picture, as well as a very reserved prognosis...
  25. ncbi Molecular dissection of hyperdiploid multiple myeloma by gene expression profiling
    Wee J Chng
    Department of Hematology Oncology, Mayo Clinic, Scottsdale, Arizona, USA
    Cancer Res 67:2982-9. 2007
    ..Furthermore, the signatures that defined these clusters may provide a basis for tailoring treatment to individual patients...
  26. pmc Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes
    Jack Christophe Cossec
    Centre de Recherche de l Institut du Cerveau et de la Moelle, CNRS UMR7225, UPMC, INSERM UMRS975, Hopital Pitie Salpetriere, Paris, France
    Hum Mol Genet 21:3156-72. 2012
    ..These findings provide new insights into the contribution of SYNJ1 overexpression to the endosomal changes observed in DS and suggest an attractive new target for rescuing endocytic dysfunction and lipid metabolism in DS and in AD...
  27. ncbi Impairment of F1F0-ATPase, adenine nucleotide translocator and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy
    Daniela Valenti
    Institute of Biomembranes and Bioenergetics, National Research Council CNR, Bari, Italy
    Biochem J 431:299-310. 2010
    ..dysfunction has been proposed in the pathogenesis of DS (Down's syndrome), a multifactorial disorder caused by trisomy of human chromosome 21...
  28. ncbi The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome)
    George M Savva
    Department of Public Health and Primary Care, University of Cambridge, Institute of Public Health, Cambridge, UK
    Prenat Diagn 30:57-64. 2010
    ..the maternal age-specific live birth prevalence (in the absence of prenatal diagnosis and selective termination) of trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) and compare it with that of trisomy 21 (Down syndrome).
  29. pmc Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 14:1268-74. 2004
    b>Trisomy 21 is the prototype of human aneuploidies. Since its discovery in 1959, the hypothesis has been that overexpression of the approximately 230 human chromosome 21 (Hsa21) genes result in the complex phenotype...
  30. ncbi T(14;18)(q32;q21) involving IGH and MALT1 is a frequent chromosomal aberration in MALT lymphoma
    Berthold Streubel
    Department of Pathology, Division of Oncology, Vienna General Hospital, University of Vienna, Vienna, Austria
    Blood 101:2335-9. 2003
    ..However, trisomy 3 and/or 18 was found in 4 of 12 cases, suggesting that the t(14;18)(q32;q21) does not occur as the sole genetic ..
  31. pmc Aneuploidy affects proliferation and spontaneous immortalization in mammalian cells
    Bret R Williams
    David H Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology MIT, Cambridge, MA 02139, USA
    Science 322:703-9. 2008
    ..Our data indicate that aneuploidy decreases not only organismal but also cellular fitness and elicits traits that are shared between different aneuploid cells...
  32. ncbi Epidemiology of Down syndrome
    Stephanie L Sherman
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Ment Retard Dev Disabil Res Rev 13:221-7. 2007
    ..Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances...
  33. ncbi T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma
    B Streubel
    Department of Pathology, Vienna General Hospital, Medical University of Vienna, Vienna, Austria
    Leukemia 19:652-8. 2005
    ..Most t(3;14)(p14.1;q32) + MALT lymphomas harbored additional genetic abnormalities, such as trisomy 3. Further studies revealed that the three known translocations and t(3;14)(p14.1;q32) are mutually exclusive...
  34. pmc The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome
    Nadia P Belichenko
    Department of Neurology and Neurological Sciences and the Center for Research and Treatment of Down Syndrome, Stanford University Medical Center, Stanford, California 94305 5489, USA
    J Neurosci 29:5938-48. 2009
    ..The stage is now set for studies to decipher the gene(s) that play a conspicuous role in creating these phenotypes...
  35. pmc Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice
    Tao Yu
    Genetics Program and Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Brain Res 1366:162-71. 2010
    As the genomic basis for Down syndrome (DS), human trisomy 21 is the most common genetic cause of intellectual disability in children and young people...
  36. pmc Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    Jan P Schouten
    MRC Holland, Hudsonstraat 68, 1057SN Amsterdam, The Netherlands
    Nucleic Acids Res 30:e57. 2002
    ..Probe target sequences are small (50-70 nt). The prerequisite of a ligation reaction provides the opportunity to discriminate single nucleotide differences...
  37. ncbi Chromosome abnormalities clustering and its implications for pathogenesis and prognosis in myeloma
    C S Debes-Marun
    Mayo Clinic Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA
    Leukemia 17:427-36. 2003
    ..b>Trisomy of chromosome 13 was rare ( <2%)...
  38. ncbi Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations
    Yu K Tong
    Department of Chemical Pathology, Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China
    Clin Chem 52:2194-202. 2006
    ..e., by analyzing the allelic ratio of a single-base variation present within DNA molecules exhibiting a placental-specific epigenetic signature in maternal plasma...
  39. pmc A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome
    Patricia Lopes Pereira
    Molecular Embryology and Immunology, Universite d Orleans, UMR6218, Orleans cedex 2, France
    Hum Mol Genet 18:4756-69. 2009
    Mental retardation in Down syndrome (DS), the most frequent trisomy in humans, varies from moderate to severe...
  40. ncbi Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Pediatr Neurol 45:274-8. 2011
    ..3 and trisomy 19p13.3 identified by whole-genome array comparative genomic hybridization analysis...
  41. ncbi Changing clinical presentations and survival pattern in trisomy 18
    Chien Chou Hsiao
    Department of Pediatrics, Children s Hospital, Changhua Christian Hospital, Taiwan
    Pediatr neonatol 50:147-51. 2009
    The clinical presentations and survival patterns of infants with trisomy 18 have changed with increasing utilization of prenatal ultrasound and amniocentesis, and improvements in neonatal intensive care.
  42. ncbi Perinatal care and outcome of fetuses with trisomies 13 and 18 following a parental decision not to terminate the pregnancy
    Jeanne Sibiude
    Department of Obstetrics and Gynecology, Assistance Publique, Hopitaux de Paris, Louis Mourier Hospital, France
    Fetal Diagn Ther 29:233-7. 2011
    ..To describe pregnancy outcomes of fetuses affected by trisomies 13 and 18 following prenatal diagnosis and a decision to continue the pregnancy...
  43. ncbi Survival of Texas infants born with trisomies 21, 18, and 13
    Catherine Vendola
    Kaiser Permanente, San Jose Medical Center, San Jose, California, USA
    Am J Med Genet A 152:360-6. 2010
    ..This study assessed ethnic-specific population-based survival probabilities among infants for each trisomy. All cases of trisomies 21, 18, and 13 born in Texas between 1999 and 2003 were obtained from the Texas Birth ..
  44. ncbi Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    Pediatr Int 49:380-6. 2007
    This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI).
  45. ncbi Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q
    Masaru Tamura
    Genetic Strains Research Center, Mammalian Genetics Laboratory, National Institute of Genetics, 1111 Yata, Mishima, Shizuoka 411 8540, Japan
    Hum Mol Genet 22:2471-81. 2013
    Partial trisomy distal 4q (denoted 4q+) is a human chromosomal disorder caused by duplication of the distal end of the long arm of chromosome 4 (Chr4)...
  46. ncbi App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome
    Anne M Cataldo
    Mailman Research Center, McLean Hospital, Belmont, Massachusetts 02478, USA
    J Neurosci 23:6788-92. 2003
    ..Here, we show that a genetic model of DS (trisomy 21), the segmental trisomy 16 mouse Ts65Dn, develops enlarged neuronal early endosomes, increased ..
  47. ncbi Screening for chromosomal defects
    K H Nicolaides
    Ultrasound Obstet Gynecol 21:313-21. 2003
  48. pmc Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers
    C M Brewer
    J Med Genet 39:e54. 2002
  49. ncbi Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review
    Christopher B Griffith
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202 5251, USA
    Am J Med Genet A 149:1346-58. 2009
    b>Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual...
  50. ncbi The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome
    Andre Megarbane
    Institut Jerome Lejeune, Paris, France
    Genet Med 11:611-6. 2009
    b>Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21...
  51. pmc Chromosomal protein HMG-14 gene maps to the Down syndrome region of human chromosome 21 and is overexpressed in mouse trisomy 16
    J Pash
    Laboratory of Molecular Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 87:3836-40. 1990
    ..RNA blot-hybridization analysis and detailed analysis of HMG-14 protein levels indicate that mouse trisomy 16 embryos have approximately 1...
  52. pmc A review of trisomy X (47,XXX)
    Nicole R Tartaglia
    Department of Pediatrics, University of Colorado Denver School of Medicine, 13123 East 16th Ave, Aurora, CO 80045, USA
    Orphanet J Rare Dis 5:8. 2010
    b>Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)...
  53. ncbi Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes
    Ascensión Vera-Carbonell
    Seccion de Citogenetica, Centro de Bioquimica y Genetica Clinica, Hospital U Virgen de la Arrixaca, El Palmar, Murcia, Spain
    Am J Med Genet A 149:2513-21. 2009
    ..abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p...
  54. ncbi Involvement and functional impairment of the CD34(+)CD38(-)Thy-1(+) hematopoietic stem cell pool in myelodysplastic syndromes with trisomy 8
    Lars Nilsson
    Department of Stem Cell Biology, Lund University Hospital, Sweden
    Blood 100:259-67. 2002
    ..a hypothesis supported by recent studies of purified CD34(+)Thy1(+) hematopoietic stem cells (HSCs) in cases with trisomy 8 (+8)...
  55. ncbi The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
    Joan K Morris
    Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew s and the London, Queen Mary s School of Medicine and Dentistry, Charterhouse Square, London, UK
    Am J Med Genet A 146:827-32. 2008
    ..is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome)...
  56. ncbi Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features
    Arnaldo Bartocci
    Unit of Neurophysiopathology, Hospital of Perugia, Italy
    Brain Dev 30:425-9. 2008
    ..e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq...
  57. ncbi First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study
    Antoni Borrell
    Prenatal Diagnosis Unit, Institute of Gynecology, Obstetrics and Neonatology, Hospital Clinic, University of Barcelona Medical School, Barcelona, Catalonia, Spain
    Prenat Diagn 24:541-5. 2004
    To assess the effectiveness of the Combined Test in the prenatal detection of trisomy 21 in the general pregnant population using a new timing for the screening approach.
  58. ncbi Trisomy 4, a new chromosomal abnormality in Waldenström's macroglobulinemia: a study of 39 cases
    C Terre
    Leukemia 20:1634-6. 2006
  59. ncbi Survival with trisomy 18--data from Switzerland
    D Niedrist
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 140:952-9. 2006
    We collected records of 352 cases of trisomy 18 karyotyped between 1964 and May 2003 from the two major cytogenetic laboratories in Northeastern Switzerland...
  60. ncbi Congenital malformations among liveborn infants with trisomies 18 and 13
    Stephen J Pont
    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
    Am J Med Genet A 140:1749-56. 2006
    b>Trisomy 18 and trisomy 13 are associated with serious and/or fatal birth defects, with death frequently occurring in the first month of life. Previous studies are limited by small samples and are dated...
  61. ncbi Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    Am J Med Genet A 140:945-51. 2006
    b>Trisomy 18 is the second most common autosomal trisomy in newborns. The birth prevalence of this disorder is approximately 1 in 3,000 to 1 in 8,000, and the life span of the majority of patients is less than 1 year...
  62. pmc Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients
    Keiko Tsukada
    Department of Pediatrics, Dokkyo Medical University School of Medicine, Kitakobayashi 880, Mibu, Tochigi, 321 0293, Japan
    Cell Biochem Biophys 63:191-8. 2012
    Intensive treatment for newborns with trisomy 13 is controversial because of their lethal prognosis. We report the better life prognosis of patients with trisomy 13 who received intensive treatment...
  63. pmc A validated FISH trisomy index demonstrates the hyperdiploid and nonhyperdiploid dichotomy in MGUS
    Wee Joo Chng
    Mayo Clinic Scottsdale, Comprehensive Cancer Center and Division of Hematology and Onocology, Scottsdale, AZ 85259, USA
    Blood 106:2156-61. 2005
    ..In this study, we derived a fluorescent in situ hybridization (FISH)-based trisomy index from pooled cytogenetic data (karyotype analysis) from 2 large cohorts of patients with MM with abnormal ..
  64. ncbi Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations
    Cristina Lopez
    Hematopathology Unit, Pathology Department, Hospital Clinic, Institut d Investigacions Biomèdiques Agustí Pi i Sunyer IDIBAPS, University of Barcelona, Barcelona, Spain
    Genes Chromosomes Cancer 51:881-9. 2012
    ..Chromosomal abnormalities commonly found using conventional cytogenetics and FISH are del(11)(q22-23), trisomy 12, del(13)(q14), and del(17)(p13). Trisomy 12 is the most frequent numerical abnormality in CLL...
  65. ncbi Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation
    Ana Fatima A Ferreira
    Harris Birthright Research Centre for Fetal Medicine, King s College Hospital, London, UK
    Prenat Diagn 32:854-8. 2012
    To measure changes in the posterior fossa of first-trimester fetuses with trisomy 18, trisomy 13 and triploidy.
  66. ncbi Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest
    B R Waller
    Department of Cell Biology and Anatomy, Cardiovascular Developmental Biology Center, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    Anat Rec 260:279-93. 2000
    The trisomy 16 (Ts16) mouse is generally considered a model for human Down's syndrome (trisomy 21)...
  67. ncbi Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities
    Kypros H Nicolaides
    Harris Birthright Research Centre for Fetal Medicine, King s College, London University, Denmark Hill, London SE5 8RX
    Am J Obstet Gynecol 191:45-67. 2004
    ..Prospective studies in a total of 200,868 pregnancies, including 871 fetuses with trisomy 21, have demonstrated that increased nuchal translucency can identify 76...
  68. ncbi First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13
    C K Ekelund
    Department of Fetal Medicine, Rigshospitalet, Copenhagen, Denmark
    Ultrasound Obstet Gynecol 38:140-4. 2011
    ..in 2004 according to which all pregnant women should be offered a first-trimester combined risk assessment for trisomy 21 (T21)...
  69. pmc MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13
    Vijay G Sankaran
    Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA
    Proc Natl Acad Sci U S A 108:1519-24. 2011
    ..In human trisomy 13, there is delayed switching and persistence of fetal hemoglobin (HbF) and elevation of embryonic hemoglobin in ..
  70. pmc Gain of MYC underlies recurrent trisomy of the MYC chromosome in acute promyelocytic leukemia
    Letetia Jones
    Helen Diller Family Comprehensive Cancer Center and Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA 94143, USA
    J Exp Med 207:2581-94. 2010
    ..It has been hypothesized that gain of the MYC protooncogene is of central importance in trisomy 8, but the experimental data to support this are limited and controversial...
  71. ncbi Pure segmental trisomy 1q42-qter in a boy with a severe phenotype
    Antonio Percesepe
    Am J Med Genet A 143:2339-42. 2007
  72. pmc Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18
    Keiko Koide
    Division of Genetics, Department of Pediatrics, Floating Hospital for Children at Tufts Medical Center, 800 Washington Street, Box 394, Boston, MA 02111, USA
    Hum Genet 129:295-305. 2011
    b>Trisomy 18 is a common human aneuploidy that is associated with significant perinatal mortality...
  73. ncbi An algorithm for determining the origin of trisomy and the positions of chiasmata from SNP genotype data
    Alem S Gabriel
    School of Biosciences, University of Kent, Canterbury, CT2 7NJ, UK
    Chromosome Res 19:155-63. 2011
    b>Trisomy causes mental retardation, pregnancy loss, IVF failure, uniparental disomy and several other pathologies, and its accurate detection is thus clinically essential...
  74. ncbi Is trisomy 14 mosaic a clinically recognizable syndrome?--case report and review
    Erika von Sneidern
    Universidad del Rosario Medical School, Santa Fe de Bogota, Colombia
    Am J Med Genet A 146:1609-13. 2008
  75. ncbi Survival of trisomy 18 cases in Japan
    G Imataka
    Department of Pediatrics, Dokkyo University School of Medicine, Japan
    Genet Couns 18:303-8. 2007
    The prognosis of trisomy 18 is lethal, but recently some long-term survival cases have been recognized. We report here the mortality rate of trisomy 18 based on our hospital data and sporadically published reports in Japan...
  76. ncbi Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 140:937-44. 2006
    Management of neonates with trisomy 18 is controversial, supposedly due to the prognosis and the lack of precise clinical information concerning efficacy of treatment...
  77. ncbi Choline acetyltransferase activity at different ages in brain of Ts65Dn mice, an animal model for Down's syndrome and related neurodegenerative diseases
    Andrea Contestabile
    Department of Human and General Physiology, University of Bologna, Italy
    J Neurochem 97:515-26. 2006
    ....
  78. pmc Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes
    Tomas Vacik
    Institutes of Molecular Genetics and Physiology, Academy of Sciences of the Czech Republic, 14220 Prague, Czech Republic
    Proc Natl Acad Sci U S A 102:4500-5. 2005
    ..The trisomy of human chromosome (Chr) 21, known as Down's syndrome, is regularly associated with mental retardation and a ..
  79. ncbi Prognosis of acute myeloid leukemia patients up to 60 years of age exhibiting trisomy 8 within a non-complex karyotype: individual patient data-based meta-analysis of the German Acute Myeloid Leukemia Intergroup
    Markus Schaich
    Department of Internal Medicine I, University of Dresden, Germany
    Haematologica 92:763-70. 2007
    b>Trisomy 8 (+8) is among the commonest genetic aberrations seen in acute myeloid leukemia (AML). However, the prognostic significance of this aberration and the best consolidation strategy for patients with it are still not resolved...
  80. pmc Single-agent lenalidomide induces complete remission of acute myeloid leukemia in patients with isolated trisomy 13
    Todd A Fehniger
    Department of Internal Medicine, Division of Oncology, Siteman Cancer Center, Washington University, St Louis, MO, USA
    Blood 113:1002-5. 2009
    ..complete remission in 2 older AML patients treated with high-dose, single-agent lenalidomide; each patient had trisomy 13 as the sole cytogenetic abnormality...
  81. pmc Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew
    Terry Hassold
    School of Molecular Biosciences and Center for Reproductive Biology, Washington State University, Pullman, Washington 99164, USA
    Curr Opin Pediatr 21:703-8. 2009
    The relationship between increasing maternal age and trisomy has been recognized for over 50 years and is one of the most important etiological factors associated with any human genetic disorder...
  82. ncbi Increased mitochondrial superoxide generation in neurons from trisomy 16 mice: a model of Down's syndrome
    S Schuchmann
    Institut fur Physiologie der Charite, Humboldt Universitat Berlin, Germany
    Free Radic Biol Med 28:235-50. 2000
    ..To test this hypothesis, we investigated superoxide formation in cultured hippocampal neurons from diploid and trisomy 16 mice (Ts16), a model of Down's syndrome...
  83. ncbi Trisomy 12 and lymphoplasmacytoid lymphocytes in chronic leukemic B-cell disorders
    V Hjalmar
    Department of Medicine, Karolinska Institutet, Danderyd Hospital, Sweden
    Haematologica 83:602-9. 1998
    Although the finding of trisomy 12 in B-cell malignancies has been extensively documented especially in B-CLL, little is known about the clonal involvement of different tissues and there are few sequential studies documenting the ..
  84. ncbi Case-control analysis of paternal age and trisomic anomalies
    E de Souza
    Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Wolfson Institute of Preventive Medicine, Charterhouse Square, London, UK
    Arch Dis Child 95:893-7. 2010
    To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome.
  85. pmc Dysregulation of gene expression in the artificial human trisomy cells of chromosome 8 associated with transformed cell phenotypes
    Hisakatsu Nawata
    Laboratory of Radiation Biology, Research Reactor Institute, Kyoto University, Osaka, Japan
    PLoS ONE 6:e25319. 2011
    ..in normal human cells, we generated artificial cells of human primary fibroblast having three chromosome 8 (trisomy 8 cells) by using microcell-mediated chromosome transfer technique...
  86. pmc Autism, language and communication in children with sex chromosome trisomies
    Dorothy V M Bishop
    Department of Experimental Psychology, University of Oxford, Tinbergen Building, 2, South Parks Road, Oxford OX1 3UD, UK
    Arch Dis Child 96:954-9. 2011
    ..The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue...
  87. ncbi Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18
    Carol E Anderson
    Department of Pediatrics, Section of Clinical Genetics, Drexel University College of Medicine and St Christopher s Hospital for Children, Philadelphia, Pennsylvania 19134, USA
    Am J Med Genet A 121:52-5. 2003
    This is a report of a trisomy 18 patient who developed Wilms tumor in conjunction with perilobar nephroblastomatosis (NB) at 9 years and 5 months of age...
  88. doi Care of children with trisomy 18 in Japan
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 146:1369-71. 2008
  89. ncbi Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother
    Marina Michelson
    Institute of Medical Genetics, Wolfson Medical Center, 58100 Holon, Israel
    Eur J Paediatr Neurol 15:230-3. 2011
    ..We suggest that CGH microarray should be performed in cases with intractable epilepsy or schizophrenia, with or without mental retardation...
  90. ncbi Intensive cardiac management in patients with trisomy 13 or trisomy 18
    Yukihiro Kaneko
    Department of Cardiovascular Surgery, Japanese Red Cross Medical Center, Tokyo, Japan
    Am J Med Genet A 146:1372-80. 2008
    ..However, whether it would be a treatment option for children with trisomy 13 or trisomy 18 syndrome is controversial because the efficacy on survival in patients with these trisomies has ..
  91. ncbi Trisomy 12 and elevated GLI1 and PTCH1 transcript levels are biomarkers for Hedgehog-inhibitor responsiveness in CLL
    Sarah Decker
    Department of Hematology Oncology, University Medical Center Freiburg, Hugstetter Strasse 55, Freiburg, Germany
    Blood 119:997-1007. 2012
    ..Responsiveness correlated with elevated GLI1 and PTCH1 transcript levels and the presence of trisomy 12, whereas no other karyotype correlated with responsiveness...
  92. ncbi Prenatal diagnosis of trisomy 18 as true mosaicism by three-dimensional ultrasonography: a case report
    Hélio Antonio Guimarães Filho
    Reinaldo Tavares de Melo Street, 142 901, Manaíra, Joao Pessoa, Paraiba, ZIP 58038 300, Brazil
    Arch Gynecol Obstet 275:133-5. 2007
    b>Trisomy of chromosome 18 is the second most common autosomal trisomy, occurring in approximately 1:7,000 live births...
  93. pmc Disruption of bone development and homeostasis by trisomy in Ts65Dn Down syndrome mice
    Joshua D Blazek
    Department of Biology, Indiana University Purdue University Indianapolis, 723 W Michigan Street, SL306, Indianapolis, IN 46202, USA
    Bone 48:275-80. 2011
    Down syndrome (DS) is a genetic disorder resulting from trisomy 21 that causes cognitive impairment, low muscle tone and craniofacial alterations...
  94. ncbi A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review
    Jaime Garcia-Heras
    Genetic Testing Center, Bureau of Laboratories, Texas Department of Health, Denton, Texas, USA
    Am J Med Genet 109:226-30. 2002
    ..in a four-year-old girl with malformations, developmental delay, and behavioral problems that resemble those for trisomy 4p...
  95. ncbi Trisomy 14 mosaicism: a case report and review of the literature
    M Fran Lynch
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    J Perinatol 24:121-3. 2004
    b>Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features...
  96. ncbi Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium)
    Eric M Graham
    Division of Pediatric Cardiology, Charleston, South Carolina 29425, USA
    Am J Cardiol 93:801-3. 2004
    ..With data from a multicenter registry, we report 35 cases of cardiac surgery in infants and children with trisomy 13 or 18 with a 91% hospital survival rate...
  97. pmc Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review
    Victoria Leggett
    Department of Experimental Psychology, University of Oxford, UK
    Dev Med Child Neurol 52:119-29. 2010
    ..To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs)...
  98. ncbi Clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome
    J Kameoka
    The Department of Rheumatology and Hematology, Tohoku University School of Medicine, 1 1, Seiryo, Aoba ku, Sendai, Miyagi 980 8574, Japan
    Cancer Genet Cytogenet 124:159-64. 2001
    Tetrasomy 8, though rare, is usually associated with trisomy 8, a far more common chromosomal abnormality in acute myeloid leukemia (AML)...
  99. pmc Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study
    Linda van den Berg
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Med Genet A 152:630-7. 2010
    A female patient with a partial trisomy 16q was described previously...
  100. ncbi Enhanced plating efficiency of trypsin-adapted human embryonic stem cells is reversible and independent of trisomy 12/17
    Elayne M Chan
    Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts 02115, USA
    Cloning Stem Cells 10:107-18. 2008
    ..Nevertheless, the high plating efficiency of trypsin passaged hESCs is a reversible phenotype, regardless of chromosomal abnormalities, suggesting that epigenetic events are responsible for the switch in phenotype...
  101. ncbi The origin of human aneuploidy: where we have been, where we are going
    Terry Hassold
    School of Molecular Biosciences, Washington State University, Pullman, WA 99164, USA
    Hum Mol Genet 16:R203-8. 2007
    ..In this review, we summarize some of the data that have led to these conclusions, and discuss some of the approaches now being used to address the underlying causes of meiotic non-disjunction in humans...

Research Grants70

  1. Genome-wide recombination as a risk factor for nondisjunction
    NATASHA D HOLLIS; Fiscal Year: 2010
    ..For years, trisomy 21, also known as Down Syndrome (DS), has been used as a model to study human nondisjunction...
  2. NFAT Signaling and Down Syndrome
    Gerald R Crabtree; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): The most common human aneuploidy is complete or partial trisomy of human chromosome 21 (HSA21), which results in Down Syndrome (DS)...
  3. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    Nancy M Hollingsworth; Fiscal Year: 2013
    ..In humans, failures in meiosis result in infertility and birth defects such as Trisomy 21 or Down Syndrome...
  4. Molecular Basis of Nuchal Edema
    Young Kwon Hong; Fiscal Year: 2013
    ..proposal, we provide our preliminary evidence that Notch signal is dysregulated in the lymphatic system of human trisomy 21 Down syndrome fetuses and their mouse model, trisomy 16 mice embryos that exhibit NE...
  5. The Role of Cks Proteins in Mammalian Meiosis
    Charles H Spruck; Fiscal Year: 2010
    ..Aneuploidy (trisomy or monosomy) is the most common genetic abnormality in human pregnancies (5-25% of cases) and the predominant ..
  6. Translating Dosage Compensation to Trisomy
    Jeanne Bentley Lawrence; Fiscal Year: 2010
    ..About 1 in 300 live births carries a trisomy, which can involve chromosome 13, 18, 21, X (XXY, XXX), or Y (XYY)...
  7. Genetic conflict shapes centromeres and heterochromatin
    Harmit S Malik; Fiscal Year: 2013
    ..defects in which can lead to infertility as well as to aneuploidy - commonly found in birth defects like trisomy (e.g. Down's syndrome) and in transitions to cancer...
  8. Human Pluripotent Stem Cell and Progenitor Models of Cardiac and Blood Diseases
    LEONARD IRA ZON; Fiscal Year: 2013
    ..proteins (Shwachman-Bodian-Diamond Syndrome and Diamond-Blackfan Anemia), and represent a constitutional'trisomy with prominent hematologic and cardiac anomalies (Down Syndrome)...
  9. GATA1 Mutation in Defective Erythropoiesis
    John D Crispino; Fiscal Year: 2013
    ..In the presence of trisomy 21, GATA1 mutations that delete the N- terminus lead to Down syndrome associated Acute Megakaryoblastic Leukemia (..
  10. Regulation of Replication Origin Usage in Saccharomyces cerevisiae
    Bik Kwoon Tye; Fiscal Year: 2009
    ..Therefore, understanding the regulation of DNA replication is central to the study of the etiology of all genetic diseases rooted in genome instability including trisomy and cancer.
  11. Non-Invasive Detection of Fetal Aneuploidy by Next-Generation DNA Sequencing
    DAVID GERARD PETERS; Fiscal Year: 2013
    ..However, these invasive procedures involve a risk of associated miscarriage. This is significant because, for trisomy 21, current non-invasive first trimester screening methods have detection rates of 82 to 87% and false positive ..
  12. Genetic Basis of Failed Cognition in Young and Aged Mouse Models of Trisomy 21
    Eugene Yu; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Trisomy 21, Down syndrome (DS), affects approximately 400,000 people in the U.S., causing cognitive disability, which includes the neuropathology of Alzheimer's disease and late-life dementia...
  13. Role of PIP2 metabolism imbalance in Down Syndrome
    GILBERT DIPAOLO; Fiscal Year: 2012
    ..This proposal builds on our own evidence showing that the trisomy of SYNJ1 causes a biochemical defect, i.e...
  14. A Molecular View of Chromosome Recombination &Segregation in Eukaryotic Meiosis
    KEVIN DANIEL CORBETT; Fiscal Year: 2013
    ..g. Down syndrome, caused by trisomy of chromosome 21)...
  15. Genomic Complexity and Clinical Outcome in Chronic Lymphocytic Leukemia
    SAMI NIMER MALEK; Fiscal Year: 2013
    ..delineated five prognostically significant chromosomal aberrations: del13q14 (about 50%), del11q22-q23 (~10%), trisomy 12 (~15-20%), del17p13 (~5-7%) and del6q21...
  16. MicroRNAs and hematopoietic differentiation
    Harvey F Lodish; Fiscal Year: 2013
    ..In human trisomy 13 there is delayed switching and persistence of fetal hemoglobin (HbF) and elevation of embryonic hemoglobin in ..
  17. Genetic Dissection of Trisomy 21
    Eugene Yu; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Trisomy 21/Down syndrome (DS) is one of the most important human genetic diseases. It currently affects approximately 350,000 people in the United States and more than 2,000,000 people worldwide...
  18. MOLECULAR GENETICS OF RHIZOBIUM NODULATION PLASMIDS
    Graham C Walker; Fiscal Year: 2013
    ..If C21ORF57 proves to contribute to the pathology of trisomy 21, an inhibitor of C21ORF57 could be the first drug to treat Down syndrome. Work on S...
  19. Regulation of chromosome synapsis in mice
    Peijing Jeremy Wang; Fiscal Year: 2013
    ..PUBLIC HEALTH RELEVANCE: Abnormalities in meiosis are a leading cause of both infertility and birth defects (trisomy and monosomy) in humans...
  20. Down syndrome: Bridging Genes, Brain and Cognition
    JULIE RUTH KORENBERG; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Down syndrome (DS) or trisomy for chromosome 21, is a major cause of mental retardation and congenital heart disease, that affects more than 400,000 individuals in the USA...
  21. Intersectin Links Amyloidogenic Processes in Alzheimer Disease and Down Syndrome
    Jessica O Wilson; Fiscal Year: 2013
    ..over the age of 35 invariably develop AD-like neuropathology, suggesting that this variant of AD is caused by trisomy of genes related to AD on chromosome 21...
  22. Trisomy 8 in hematopoiesis and myeloid leukemia
    David J Gordon; Fiscal Year: 2013
    ..Recently, I developed two complementary approaches, using microcell mediated chromosome transfer and mosaic trisomy, that enable a direct comparison of diploid and aneuploid cells that are otherwise genetically identical...
  23. Identifying and characterizing proteins that detect unpaired DNA during meiosis.
    THOMAS MICHAEL HAMMOND; Fiscal Year: 2013
    ..Problems during meiosis can produce gametes with incorrect numbers of chromosomes, leading to disorders such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome)...
  24. Identification of Altered Molecular Signature of Down Syndrome iPS Cells
    Marcelo Bento Soares; Fiscal Year: 2010
    ..The natural history of hematologic abnormalities in children with DS suggests that trisomy 21 directly and functionally contributes to aberrant expansion of hematopoietic cells in the fetal liver during ..
  25. Calcineurin/NFAT signaling in pathogenesis of neurodegeneration in Down Syndrome
    Isabella A Graef; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The development of individuals with trisomy 21/ Down Syndrome (DS) is characterized by delayed cognitive development in infancy and childhood leading to mild to moderate mental retardation, followed ..
  26. IGF/IGF1R signaling in hematopoiesis and leukemogenesis
    Zhe Li; Fiscal Year: 2013
    ..DS-AMKL is a unique pediatric leukemia characterized by the triad of fetal origin, trisomy 21, and somatic mutations in the hematopoietic transcription factor, GATA1 (leading to production of a shorter ..
  27. Genome-wide recombination profiles in oocytes with chromosome 21 nondisjunction
    Stephanie L Sherman; Fiscal Year: 2010
    ..For the past 15 years, we have investigated trisomy 21, the leading cause of Down syndrome (DS), as a model to understand human nondisjunction...
  28. GENOMIC APPROACHES TO ANEUPLOIDY
    Roger H Reeves; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Trisomy 21 (Down syndrome, DS), is among the most complicated genetic situations compatible with substantial survival...
  29. The Genomic and Functional Consequences of Trophoblast Aneuploidy
    Y KATHERINE BIANCO; Fiscal Year: 2013
    ..In her proposed mentor's lab, Dr. Bianco has been studying the impact of trisomy 18 and 21 (T18 and T21) on gene expression patterns at the maternal-fetal interface...
  30. Mitochondrial Dysfunction in Down's Syndrome
    JORGE A BUSCIGLIO; Fiscal Year: 2010
    Down's syndrome (DS) or trisomy 21 is the most common autosomal aneuploidy that survives birth and it is the single most frequent genetic cause of mental retardation. The number of DS patients in the...
  31. Mechanisms of Leukemogenesis in Down Syndrome
    John D Crispino; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): This is a competitive renewal of an NCI grant to study the contributions of trisomy 21 to hematologic malignancies...
  32. Genetic basis of the neural crest deficit in Down syndrome mice
    Randall J Roper; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Trisomy 21 results in phenotypes collectively referred to as Down syndrome (DS) including facial dysmorphology, a distinguishing feature of individuals with DS...
  33. Rapid non-invasive prenatal Down syndrome detection using a DNA-molecule counter
    Glenn Fu; Fiscal Year: 2013
    ..Recently, a new non-invasive massively parallel sequencing test to detect trisomy 21 in the fetal DNA present in maternal plasma has become available...
  34. Parent Experiences of Continuing Pregnancy with Lethal Fetal Diagnosis
    DENISE Y COTE-ARSENAULT; Fiscal Year: 2013
    ..unprepared when they learn that their fetus has a condition that is incompatible with extrauterine life (such as trisomy 13, 18, or renal agenesis)...
  35. Identification of an Abeta fragment produced by BACE2
    Donald C Lo; Fiscal Year: 2012
    ..In conducting a hypothesis-neutral screen of genes located on the DS trisomy for enhancement of amyloid precursor protein (APP)-induced neurodegeneration, we found that one of these genes, ..
  36. Rescue of Forebrain Defects in Mouse Models of Down syndrome
    Tarik F Haydar; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Down syndrome (DS), or Trisomy 21, is the most common genetic cause of cognitive disability, afflicting 1 in every 800 live births...
  37. Replicative senescence as a tumor suppressive mechanism
    SANDY S CHANG; Fiscal Year: 2013
    ..profiles, highlighted by chromosome structural aberrations involving loss of chromosomes 11q, 13q, 17p and trisomy 13 [4,5]...
  38. Mechanisms and Function of NF-kappaB Activation at Dendritic Spines
    MOLLIE KATHERINE MEFFERT; Fiscal Year: 2013
    ..and offer potential new therapeutic targets for the treatment of brain disorders, such as Autism, depression, Trisomy 21, brain cancer and neurodegenerative disease, with known links to dysregulated gene expression.
  39. Polysomy 21 in Acute Lymphoblastic Leukemia
    DAVID MARC WEINSTOCK; Fiscal Year: 2013
    ..21) is the most common aneuploidy in B-cell acute lymphoblastic leukemia (B-ALL). Constitutional trisomy 21 (Down Syndrome, DS) is associated with a 20-fold increased risk of B-ALL, strongly suggesting a causal link...
  40. FAMILIAL VERTICAL TALUS EXOME SEQUENCING
    Christina Gurnett; Fiscal Year: 2013
    ..also called rocker-bottom foot, commonly occurs in patients with multiple congenital abnormalities, such as trisomy 18, trisomy 13, distal arthrogryposis, and myelomeningocele...
  41. Noninvasive prenatal diagnosis using targeted DNA capture and sequencing.
    RONALD WAYNE DAVIS; Fiscal Year: 2012
    ..e. Trisomy 21, Cystic fibrosis)...
  42. Trisomy 21: Risk Factors for Chromosome Non-disjunction
    Stephanie L Sherman; Fiscal Year: 2013
    ..We propose to continue the study of trisomy 21, the cause of Down syndrome (DS), as a model to understand nondisjunction...
  43. Mechanisms of asymmetric cell division during female meiosis.
    Francis J McNally; Fiscal Year: 2013
    ..Errors in meiosis lead to the absence of one chromosome (monosomy) or the presence of an extra chromosome (trisomy) in 10-30% of human conceptions with the majority of these aneuploidies leading to embryonic death...
  44. Genetic modulators of erythro-megakaryocytic development
    Stella T Chou; Fiscal Year: 2012
    ..factor GATA-1 are associated with acute megakaryoblastic leukemia (AMKL) in children with Down syndrome (DS, trisomy 21), although the mechanisms underlying this genetic interaction are unknown...
  45. Disrupted Transport of NGF-TrKA Signaling in Mouse Models of Down Syndrome
    William C Mobley; Fiscal Year: 2010
    ..e. trisomy 21), many of whom also show progressive cognitive decline...
  46. RCAN1 in Thyroid Cancer Progression
    Matthew D Ringel; Fiscal Year: 2013
    ..all RCAN1 isoforms is located on chromosome 21, and is one of many genes overexpressed in Down's syndrome (trisomy 21)...
  47. CONFERENCE--ISOLATED FETAL CELLS IN MATERNAL BLOOD
    Joe Simpson; Fiscal Year: 1993
    ..In one of our first successes, a blood sample taken prior to CVS and flow-sorted revealed trisomy 18 cells...
  48. Generation of trisomy 21 induced pluripotent stem cells
    Anita Bhattacharyya; Fiscal Year: 2010
    Down Syndrome (DS), or trisomy 21, is the most common genetic developmental disorder that leads to mental retardation...
  49. INBORN ERRORS--MOLECULAR ANALYSIS IN CULTURED CELLS
    Leon Rosenberg; Fiscal Year: 1990
    ..or proteolytic activation; 4) addressing the possible relationship between CS overexpression (due to partial trisomy 21) and Down's syndrome, and between CS underexpression (due to heterozygosity for CS deficiency) and peripheral ..
  50. Astrocytes in Down Syndrome Synaptogenesis
    Anita Bhattacharyya; Fiscal Year: 2010
    ..The experiments will utilize both cells from a DS mouse model (Ts65Dn) and human trisomy 21 cells, to define the contribution of astrocytes to dendritic growth, synapse number, and synapse function in ..
  51. Copy Number Variation as a Cause of Congenital Heart Defects in Down Syndrome
    MICHAEL EDWARD ZWICK; Fiscal Year: 2013
    ..Nearly half of individuals with trisomy 21, the cause of Down Syndrome (DS), have much higher rates of CHD...
  52. PRENATAL DOWN SYNDROME SCREENING
    Rachel Fisher; Fiscal Year: 1993
    Approximately 1 in 800 live born babies are found to have Down syndrome (complete or partial trisomy 21) [1]. The risk of delivering a baby with Down syndrome (DS) increases with increasing maternal age [2]...
  53. CHROMOSOME PAIRING AND NONDISJUNCTION IN HUMAN MEIOSIS
    Edith Cheng; Fiscal Year: 2000
    ..ages could distinguish among the models of selection that have been proposed to explain maternal age dependent trisomy. If oogonial nondisjunction followed by selection of euploid gametes in early reproduction plays a significant ..
  54. EXPRESSION OF CYSTATHIONINE SYNTHASE AND HUMAN DISEASE
    JAN KRAUS; Fiscal Year: 1993
    ..Conversely, elevated levels of CBS has been documented in trisomy 21 and may contribute to the generation of the Down syndrome phenotype...
  55. AGING EFFECTS OF ANEUPLOIDY
    W Brown; Fiscal Year: 1980
    ..The proteins identified as mapping to chromosome 21 will be tested for gene dosage effects in monosomy 21 and trisomy 21 cells using quantitative computerized analysis...
  56. DETECTION OF EARLY DEMENTIA IN ADULTS WITH DOWN SYNDROME
    KAREN BRUGGE; Fiscal Year: 1999
    Down's syndrome is a genetic disorder (trisomy 21) associated with mental retardation that serves as a model for the study of Alzheimer's disease...
  57. NMR SPECTROSCOPY IN ALZHEIMERS DISEASE
    MARIA CASERTA; Fiscal Year: 1999
    ..Dr. Caserta will study two animal models of Alzheimer's disease: an in vitro murine trisomy 16 model and an in vivo rat model of beta-amyloid deposition and neurotoxicity...
  58. GENES FOR KERATOCONUS AND OCULAR FEATURES IN TRISOMY 21
    Katherine Bergwerk; Fiscal Year: 2002
    ..Her unique population of partial trisomy Down syndrome patients are the ideal group to use in refining a gene locus for keratoconus and to make genotype- ..
  59. Aneuploid Cells in the Human Placenta
    Heinz Ulrich Weier; Fiscal Year: 2006
    ..wall and in anchoring as well as floating villi in normal placental specimens and placental tissues carrying a trisomy 21...
  60. PLASMID AND CHROMOSOME DYNAMICS GORDON CONFERENCE
    GARY KARPEN; Fiscal Year: 1999
    ..identified to be the cause of drug resistance to cancer chemotherapy, xeroderma pigmentosum, Cockayne's syndrome, trisomy-associated mental retardation and heart disease, human cancer and aging, to name a few...
  61. MECHANISMS OF HUMAN CHROMOSOME ABNORMALITIES
    HUNTINGTON WILLARD; Fiscal Year: 1999
    ..In studies of trisomy 21, we will utilize our well-established registry of over 1000 Down syndrome individuals to investigate the ..
  62. GENETIC STUDIES OF LINKAGE AND RECOMBINATION
    Aravinda Chakravarti; Fiscal Year: 1991
    ..We plan to extend these methods for multi-point mapping and to analyze teratoma/trisomy data for constructing multi-point gene maps...
  63. Functional studies on normal neural aneuploidy
    Jerold Chun; Fiscal Year: 2007
    ..Examples of such diseases include the well known Down's Syndrome which is trisomy 21 and is associated with mental retardation, and multiple variegated aneuploidy (MVA) that shows a range of ..
  64. Skewed X Inactivation and Reproductive Loss
    Dorothy Warburton; Fiscal Year: 2006
    ..The second implicates maternal mosaicism as the cause of the HSXI and recurrent trisomy. We propose a third hypothesis: X-chromosomal defects lead both to HSXI and to an increase in trisomy due to ..
  65. RECOVERY OF FETAL CELLS IN MATERNAL BLOOD
    DAVID SAMMONS; Fiscal Year: 1999
    ..of CFS, and to decrease disposable costs: (II) to test CFS in the screening of common aneuploidies such as trisomy 13, 18, and 21, and to evaluate the specificity and sensitivity of the screening method; (III) to ascertain the ..
  66. Correlative Genetic Markers in Childhood Hepatoblastoma
    Gail Tomlinson; Fiscal Year: 2009
    ..common tumor of the liver in children, is characterized by specific chromosomal changes, the most common being trisomy of chromosomes 2, 8 and 20...
  67. Metotic Spindle Assembly and Aneuploidy in Mammals
    Duane Compton; Fiscal Year: 2003
    ..Most aneuploid conceptions die before birth, but several specific aneuploid states (e.g. trisomy 21) are viable and, as a class, represent the most common cause of mental retardation in man...
  68. TRISOMY 16 AND NGF--EFFECTS ON CNS GENE EXPRESSION
    David Holtzman; Fiscal Year: 1993
    ..component of cerebral vascular amyloid and the neuritic plaques seen in both Alzheimer's disease (AD) and trisomy 21 or Down syndrome (DS)...
  69. GENETIC AND BIOCHEMICAL STUDY OF HUMAN CHROMOSOME 21
    David Patterson; Fiscal Year: 1991
    Down Syndrome (Trisomy 21) is the most common genetic cause of major mental retardation in the United States and a significant cause of congenital heart disease and spontaneous abortion...
  70. Regulation of Gene Expression in Down Syndrome
    Jonathan Pevsner; Fiscal Year: 2006
    The broad, long-term objective of the proposed research is to define the consequence of trisomy 21 (Down syndrome) on transcription (gene expression) and translation...