trisomy

Summary

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

Top Publications

  1. doi 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
  2. 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
  3. doi 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
  4. doi 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
  5. doi 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
  6. 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
  7. doi 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. doi 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
  9. 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
  10. 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

Research Grants

  1. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    NANCY HOLLINGSWORTH; Fiscal Year: 2003
  2. Genetic conflict shapes centromeres and heterochromatin
    Harmit S Malik; Fiscal Year: 2010
  3. MOLECULAR GENETICS OF RHIZOBIUM NODULATION PLASMIDS
    Graham C Walker; Fiscal Year: 2010
  4. Molecular Basis of Nuchal Edema
    Young Kwon Hong; Fiscal Year: 2010
  5. Molecular Basis of Nuchal Edema
    Young Kwon Hong; Fiscal Year: 2010
  6. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    Nancy M Hollingsworth; Fiscal Year: 2010
  7. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    NANCY HOLLINGSWORTH; Fiscal Year: 2009
  8. Mechanisms of Leukemogenesis in Down Syndrome
    John D Crispino; Fiscal Year: 2010
  9. Mechanisms of Leukemogenesis in Down Syndrome
    John Crispino; Fiscal Year: 2009
  10. Genomic Complexity and Clinical Outcome in Chronic Lymphocytic Leukemia
    SAMI NIMER MALEK; Fiscal Year: 2010

Detail Information

Publications330 found, 100 shown here

  1. doi 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.
  2. 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...
  3. doi 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).
  4. doi 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.
  5. doi 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).
  6. 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).
  7. doi 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. doi 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.
  9. 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...
  10. 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(+) ..
  11. 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...
  12. 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...
  13. 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...
  14. 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 ..
  15. 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)...
  16. doi 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).
  17. doi 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...
  18. 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...
  19. 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.
  20. 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...
  21. 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...
  22. 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...
  23. 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%)...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. doi 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...
  31. 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
    ....
  32. 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
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. doi 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 ..
  40. doi Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years
    Claire Irving
    Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne NE7 7DN, UK
    J Matern Fetal Neonatal Med 24:137-41. 2011
    ..Changes in prenatal diagnosis and maternal age are likely to have an impact on live born prevalence of trisomies 13 and 18. We investigated trends in diagnosis, prevalence, and survival in these conditions...
  41. doi 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.
  42. 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 ..
  43. 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 ..
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. doi 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...
  49. 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...
  50. 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...
  51. 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
  52. doi 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 ..
  53. 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...
  54. doi 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...
  55. 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)...
  56. 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)...
  57. 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...
  58. doi 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...
  59. 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...
  60. ncbi Failure of brain-derived neurotrophic factor-dependent neuron survival in mouse trisomy 16
    Susan G Dorsey
    Department of Physiology, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
    J Neurosci 22:2571-8. 2002
    ..Here we report the selective failure of BDNF-dependent survival in cultured hippocampal neurons from the trisomy 16 (Ts16) mouse, an animal model of Down syndrome...
  61. pmc Chromosome 7 and 19 trisomy in cultured human neural progenitor cells
    Dhruv Sareen
    Department of Neurology, University of Wisconsin School of Medicine and Public Health, Wisconsin Institutes for Medical Research WIMR, Madison, Wisconsin, USA
    PLoS ONE 4:e7630. 2009
    ..Therefore, we investigated frequently occurring chromosomal abnormalities in 21 independent fetal-derived hNPC lines and the possible mechanisms triggering such aberrations...
  62. ncbi Is the prevalence of Klinefelter syndrome increasing?
    Joan K Morris
    Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and The London, Queen Mary s School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK
    Eur J Hum Genet 16:163-70. 2008
    ....
  63. 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...
  64. doi Protocols for cytogenetic studies of human embryonic stem cells
    Lorraine Faxon Meisner
    Department of Population Health Sciences, University of Wisconsin, and Cell Line Genetics, LLC, 510 Charmany Drive, Suite 254, Madison, WI 53719, USA
    Methods 45:133-41. 2008
    ..The most frequent chromosome changes in hESC cultures are trisomy 12 and trisomy 17...
  65. ncbi Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome
    Alexander M Kleschevnikov
    Department of Neurology and Neurological Sciences, and the Institute for Neuroscience, Stanford University Medical School, Stanford University, Stanford, California 94305 5489, USA
    J Neurosci 24:8153-60. 2004
    ..Down syndrome (DS), a disorder caused by the presence of three copies of chromosome 21 (trisomy 21), is characterized by impairments in learning and memory attributable to dysfunction of the hippocampus...
  66. pmc The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
    Jan O Korbel
    Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520, USA
    Proc Natl Acad Sci U S A 106:12031-6. 2009
    Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes...
  67. 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...
  68. doi 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...
  69. doi Constitutional trisomy 8 and Behçet syndrome
    Kristin Becker
    North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK
    Am J Med Genet A 149:982-6. 2009
    The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases...
  70. ncbi Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism
    Donald U Stone
    Department of Ophthalmology, Dean A McGee Eye Institute, University of Oklahoma, Oklahoma City 73104, USA
    J AAPOS 9:290-1. 2005
    b>Trisomy 8 mosaicism can present with a wide variety of systemic and ophthalmologic manifestations...
  71. ncbi Variable frequencies of MALT lymphoma-associated genetic aberrations in MALT lymphomas of different sites
    B Streubel
    Institute of Pathology, Vienna General Hospital, Medical University of Vienna, Vienna, Austria
    Leukemia 18:1722-6. 2004
    ..5, 10.8, and 1.6% of the cases; trisomy 3 and/or 18 occurred in 42.1%...
  72. pmc Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization
    Yong Beom Shin
    Department of Rehabilitation Medicine, Pusan National University, School of Medicine, Busan, Korea
    J Korean Med Sci 23:1097-101. 2008
    Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5)...
  73. ncbi Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences
    J M de Pater
    Department of Biomedical Genetics, University Medical Centre, Utrecht, The Netherlands
    Prenat Diagn 25:151-5. 2005
    ..Our objective was to characterise a marker chromosome in cultured amniocytes of a fetus with a mos 47,XX,+mar[3]/46,XX[14] karyotype...
  74. ncbi Dental findings and dental care management in trisomy 18: case report of a 13-year-old "long-term survivor"
    Roberta R Ribeiro
    Center of Formation of Human Resources Specialized in Dental Care for Special Needs Patients, Faculty of Dentistry of Ribeirao Preto, University of Sao Paulo, Brazil
    Spec Care Dentist 26:247-51. 2006
    b>Trisomy 18 is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, microcephaly, low-set and malformed ears,..
  75. doi Separation and maintenance of normal cells from human embryonic stem cells with trisomy 12 mosaicism
    Hye Won Seol
    Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, 110 810, Korea
    Chromosome Res 16:1075-84. 2008
    ..We found that trisomy 12 was correlated with changes in hESC colony morphology during hESC maintenance...
  76. doi Behcet's disease associated with bone marrow failure in Korean patients: clinical characteristics and the association of intestinal ulceration and trisomy 8
    J K Ahn
    Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 IIwon Dong, Gangnam Gu, Seoul 135 710, Republic of Korea
    Rheumatology (Oxford) 47:1228-30. 2008
    ..The aim of this study was to determine the clinical characteristics of Behcet's disease (BD) associated with bone marrow failure (BMF), classified as conditions such as myelodysplastic syndrome (MDS) or aplastic anaemia (AA), in Korea...
  77. ncbi Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Prenat Diagn 24:393-5. 2004
    ..studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25-qter trisomy and confirmed the presence of three copies of the insulin-like growth factor 1 receptor (IGF1R) gene, included in ..
  78. doi A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome
    Ade Nubia Xavier Pacanaro
    Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 152:753-8. 2010
    ..It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum...
  79. pmc Unfavourable prognosis of patients with trisomy 18q21 detected by fluorescence in situ hybridisation in t(11;18) negative, surgically resected, gastrointestinal B cell lymphomas
    J Krugmann
    Institute of Pathology, University of Innsbruck, Mullerstrasse 44, A 6020 Innsbruck, Austria
    J Clin Pathol 57:360-4. 2004
    ..GI B cell non-Hodgkin lymphomas lacking this translocation vary in their biology and clinical outcome. The t(11;18) negative subgroup shows increased numerical changes of chromosome 18, although its clinical relevance remains unknown...
  80. 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 ..
  81. ncbi Extramedullary relapse of AML with t(9;11)(p22;q23) associated with clonal evolution from trisomy 8 into tetrasomy 8
    Tohru Takahashi
    Department of Hematology and Gastroenterology, Tenshi Hospital, Sapporo
    Intern Med 49:447-51. 2010
    ..A 57-year-old man was diagnosed as having acute monoblastic leukemia with t(9;11)(p22;q23) and trisomy 8...
  82. ncbi Partial trisomy of chromosome 10(q22-q24) due to maternal insertional translocation (15;10)
    J Y Han
    Department of Laboratory Medicine, Dong A University College of Medicine, Busan, Korea
    Am J Med Genet A 131:190-3. 2004
    ..We report on the clinical and cytogenetic findings of a newborn baby with partial trisomy 10q22-10q24 due to a maternal insertional translocation 15;10...
  83. ncbi Trisomy 11/22 diagnosed by spectral karyotyping (SKY)
    G Imataka
    Genet Couns 15:391-4. 2004
  84. ncbi Prenatal diagnosis of complete trisomy 16q in two consecutive pregnancies
    Chih Ping Chen
    Prenat Diagn 24:1019-20. 2004
  85. ncbi Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes
    K Paulsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Pathol Biol (Paris) 55:37-48. 2007
    b>Trisomy 8 as the sole abnormality is the most common karyotypic finding in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), occurring in approximately 5% and 10% of the cytogenetically abnormal cases, respectively...
  86. ncbi A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother
    Liming Bao
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio 45229 3039, USA
    Am J Med Genet A 138:361-4. 2005
    We report on a familial partial trisomy 12q in a girl and her father both of whom have an unbalanced translocation, der(16)t(12;16)(q24.31;q24.3), resulting in trisomy 12q24.31 --> qter and 16q subtelomere deletion...
  87. ncbi Congenital heart disease reminiscent of partial trisomy 2p syndrome in mice transgenic for the transcription factor Lbh
    Karoline J Briegel
    Howard Hughes Medical Institute and Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, New York University School of Medicine, New York, NY 10016, USA
    Development 132:3305-16. 2005
    Partial trisomy 2p syndrome includes a spectrum of congenital heart disease (CHD) that is characterized by complex malformations of the outflow and inflow tracts, defects in cardiac septation, heart position, as well as abnormal ..
  88. ncbi Dental management of a child with trisomy 9 mosaicism: a case report
    Moti Moskovitz
    Department of Pediatric Dentistry, School of Dental Medicine, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Pediatr Dent 28:265-8. 2006
    This case report presents the dental management of a 13-year-old girl with mosaic trisomy 9...
  89. 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 ..
  90. ncbi Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation
    Amnon Zung
    Pediatric Endocrinology Unit, Kaplan Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel
    Horm Res 67:105-10. 2007
    ..To report on the clinical and metabolic characteristic and the unique chromosomal defect of a mentally retarded and morbidly obese patient...
  91. ncbi Prenatal diagnosis: progress through plasma nucleic acids
    Y M Dennis Lo
    Li Ka Shing Institute of Health Sciences and the Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, 3032 Ngan Shing Street, Shatin, New Territories, Hong Kong SAR, China
    Nat Rev Genet 8:71-7. 2007
    ..These developments have been translated into many novel genetic, epigenetic and gene-expression markers, and are expected to have a fundamental impact on the future practice of prenatal diagnosis...
  92. ncbi Expression of bcl-3 in chronic lymphocytic leukemia correlates with trisomy 12 and abnormalities of chromosome 19
    Ellen Schlette
    Department of Hematopathology, The University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Am J Clin Pathol 123:465-71. 2005
    ..Expression also correlated with trisomy 12 and chromosome 19 abnormalities but was not limited to cases with the t(14:19)(q32;q13)...
  93. ncbi Characterization of trisomy 8 in pediatric undifferentiated sarcomas using advanced molecular cytogenetic techniques
    Shamini Selvarajah
    Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Room 3 206, Toronto, Ontario M5G 1X8, Canada
    Cancer Genet Cytogenet 174:35-41. 2007
    ..b>Trisomy 8, a frequent molecular alteration in neoplasia, is seen in several soft tissue sarcomas, including Ewing sarcoma/..
  94. doi Cytogenetic analyses of human oocytes provide new data on non-disjunction mechanisms and the origin of trisomy 16
    R Garcia-Cruz
    Unitat de Biologia Cel lular i Genètica Mèdica, Universitat Autonoma de Barcelona, Barcelona, Spain
    Hum Reprod 25:179-91. 2010
    ..Linkage studies have associated abnormal patterns of meiotic recombination to the origin of the non-disjunction event in many aneuploid conditions...
  95. 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...
  96. ncbi Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome
    M G E M Ausems
    Department of Medical Genetics, University Medical Center, Utrecht
    Genet Couns 15:405-10. 2004
    Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome: We report on a girl with a mosaic karyotype containing a supernumerary ring chromosome...
  97. ncbi Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects
    Emanuela Maserati
    Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Universita dell Insubria, via J H Dunant 5, 21100 Varese, Italy
    Cancer Genet Cytogenet 148:155-8. 2004
    ..Bone marrow chromosome changes were present in both: trisomy and tetrasomy 8 (with a pericentric inversion of one chromosome 8) in the older sister, and monosomy 7 (with ..
  98. ncbi Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
    C A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 82:128-31. 1999
    ..of an unbalanced translocation between the X-chromosome and chromosome 16, resulting in monosomy for Xp and trisomy for 16q. Only a handful of partial trisomy 16q cases have been reported in the literature among liveborns...
  99. ncbi Regression of lymphoproliferative disorder after treatment for hepatitis C virus infection in a patient with partial trisomy 3, Bcl-2 overexpression, and type II cryoglobulinemia
    Milvia Casato
    Department of Clinical Medicine, University of Rome La Sapienza, Rome, Italy
    Blood 99:2259-61. 2002
    ..A partial trisomy 3 (bands 3q11-29) and overexpression of Bcl-2 without t(14;18) translocation was detected in the monoclonal B ..
  100. ncbi Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)
    Ingrid Witters
    Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium
    Prenat Diagn 22:29-33. 2002
    ....
  101. ncbi Severe gingival recession in trisomy 18 primary dentition. A clinicopathologic case report of self-inflicted injury associated with mental retardation
    D N Tatakis
    Department of Periodontics, School of Dentistry, Loma Linda University, CA, USA
    J Periodontol 71:1181-6. 2000
    This clinicopathologic case report documents severe gingival recession in the primary dentition of a trisomy 18 patient...

Research Grants88

  1. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    NANCY HOLLINGSWORTH; Fiscal Year: 2003
    ..In cases where viable offspring are produced, mental and morphological defects such as those seen for Trisomy 21 or Turner syndrome (XO) are observed...
  2. Genetic conflict shapes centromeres and heterochromatin
    Harmit S Malik; Fiscal Year: 2010
    ..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...
  3. MOLECULAR GENETICS OF RHIZOBIUM NODULATION PLASMIDS
    Graham C Walker; Fiscal Year: 2010
    ..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...
  4. Molecular Basis of Nuchal Edema
    Young Kwon Hong; Fiscal Year: 2010
    ..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. Molecular Basis of Nuchal Edema
    Young Kwon Hong; Fiscal Year: 2010
    ..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...
  6. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    Nancy M Hollingsworth; Fiscal Year: 2010
    ..Failures in meiotic chromosome segregation in humans lead to infertility and birth defects such as Trisomy 21, the leading cause of mental retardation in the United States...
  7. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    NANCY HOLLINGSWORTH; Fiscal Year: 2009
    ..Failures in meiotic chromosome segregation in humans lead to infertility and birth defects such as Trisomy 21, the leading cause of mental retardation in the United States...
  8. Mechanisms of Leukemogenesis in Down Syndrome
    John D Crispino; Fiscal Year: 2010
    ..With respect to the role of trisomy 21 in AMKL, we discovered that the most widely used mouse model of DS, Ts65Dn mice, develop a myeloproliferative ..
  9. Mechanisms of Leukemogenesis in Down Syndrome
    John Crispino; Fiscal Year: 2009
    ..With respect to the role of trisomy 21 in AMKL, we discovered that the most widely used mouse model of DS, Ts65Dn mice, develop a myeloproliferative ..
  10. Genomic Complexity and Clinical Outcome in Chronic Lymphocytic Leukemia
    SAMI NIMER MALEK; Fiscal Year: 2010
    ..delineated five prognostically significant chromosomal aberrations: del13q14 (about 50%), del11q22-q23 (~10%), trisomy 12 (~15-20%), del17p13 (~5-7%) and del6q21...
  11. Mechanisms of Leukemogenesis in Down Syndrome
    John Crispino; Fiscal Year: 2007
    ..With respect to the role of trisomy 21 in AMKL, we discovered that the most widely used mouse model of DS, Ts65Dn mice, develop a myeloproliferative ..
  12. NFAT Signaling and Down Syndrome
    Gerald R Crabtree; Fiscal Year: 2010
    The most common human aneuploidy is complete or partial trisomy of human chromosome 21 (HSA21), which results in Down Syndrome (DS). Trisomy 21 occurs at a frequency of 1 in 43 spontaneous abortions and 1 in 750 live births...
  13. Genetic Basis of Failed Cognition in Young and Aged Mouse Models of Trisomy 21
    Eugene Yu; Fiscal Year: 2010
    b>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...
  14. Role of Calcineurin/NFAT signaling in the pathogenesis of neurodegeneration in Do
    Isabella A Graef; Fiscal Year: 2010
    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 by a deterioration of cognitive ..
  15. 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...
  16. Tau missplicing caused by RNA processing proteins located on chromosome 21
    Athena Andreadis; Fiscal Year: 2007
    Tau missplicing caused by RNA processing proteins located on chromosome 21 Trisomy 21 (Down syndrome, DS), the most common chromosomal disorder (incidence of about 1:800), results in morphological defects, mental retardation and early-..
  17. ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST
    NANCY HOLLINGSWORTH; Fiscal Year: 1999
    ..In cases where viable offspring are produced, mental and morphological defects such as those seen for Trisomy 21 (Down's syndrome) are observed...
  18. 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...
  19. 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 ..
  20. 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 ..
  21. GENOMIC APPROACHES TO ANEUPLOIDY
    Roger H Reeves; Fiscal Year: 2010
    Down syndrome (DS) is caused by trisomy for human chromosome 21 (HSA21)...
  22. GENOMIC APPROACHES TO ANEUPLOIDY
    ROGER REEVES; Fiscal Year: 2007
    GENOMIC APPROACHES TO ANEUPLOIDY Down syndrome (DS) is caused by trisomy for human chromosome 21 (HSA21)...
  23. GENOMIC APPROACHES TO ANEUPLOIDY
    Roger H Reeves; Fiscal Year: 2010
    Down syndrome (DS) is caused by trisomy for human chromosome 21 (HSA21)...