American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

Supplement: Trisomy 21 (Down Syndrome)

1990

Volume 37, Issue S7

Pages fmi–fmi, 1–325

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Masthead (page fmi)

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370701

  2. Introductions

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Encomium and dedication: Angelo serra—four decades in human and medical genetics (pages 1–8)

      Giovanni Neri and John M. Opitz

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370702

    2. Opening remarks (pages 9–10)

      Adriano Bompiani

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370703

    3. Trisomy 21: Conference report and 1990 update (pages 11–19)

      Angelo Serra and Giovanni Neri

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370704

  3. Pathogenesis-Clinical-Epidemiology

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Pathogenesis of mental deficiency in trisomy 21 (pages 20–30)

      Jeérôme Lejeune

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370705

    2. The consequences of chromosome imbalance (pages 31–37)

      Charles J. Epstein

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370706

    3. Reflections on the pathogenesis of Down syndrome (pages 38–51)

      John M. Opitz and Enid F. Gilbert-Barness

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370707

    4. Clinical aspects of down syndrome from infancy to adulthood (pages 52–56)

      Siegfried M. Pueschel

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370708

    5. Thyroid function in patients with Down syndrome: Preliminary results from non-institutionalized patients in the Veneto region (pages 57–58)

      Giovanni B. Pozzan, Franco Rigon, Maria E. Girelli, Domenico Rubello, Benedetto Busnardo and Carlo Baccichetti

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370709

    6. Growth retardation in Down syndrome in relation to insulin-like growth factors and growth hormone (pages 59–62)

      Göran Annerén, Karl-Henrik Gustavson, Vicki R. Sara and Torsten Tuvemo

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370710

    7. Growth delay in Down syndrome and zinc sulphate supplementation (pages 63–65)

      G. Napolitano, G. Palka, S. Grimaldi, C. Giuliani, G. Laglia, G. Calabrese, M. A. Satta, G. Neri and Prof F. Monaco

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370711

    8. You have free access to this content
      Growth charts of Down syndrome in sicily: Evaluation of 382 children 0–14 years of age (pages 66–70)

      Dr. Ettore Piro, Carmelo Pennino, Marina Cammarata, Giovanni Corsello, Adele Grenci, Carmela Lo Giudice, Maria Morabito, Maria Piccione and Liborio Giuffrè

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370712

    9. Neonatal growth patterns in a population of consecutively born Down syndrome children (pages 71–74)

      Maurizio Clementi, Elisa Calzolari, Licia Turolla, Silvio Volpato and Romano Tenconi

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370713

    10. Incidence, survival, and mortality in Down syndrome in Denmark (pages 75–78)

      Dr. Margareta Mikkelsen, Hanne Poulsen and Kim G. Nielsen

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370714

    11. Epidemiology of Down syndrome in 118,265 consecutive births (pages 79–83)

      Dr. Claude Stoll, Yves Alembik, Béatrice Dott and Marie-Paule Roth

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370715

    12. Down syndrome in the Belluno district (Veneto region, Northeast Italy): Age distribution and morbidity (pages 84–86)

      Carlo Baccichetti, Elisabetta Lenzini and Renzo Pegoraro

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370716

    13. Down syndrome in Kuwait (pages 87–88)

      S. A. Al-Awadi, T. I. Farag, A. S. Teebi, K. K. Naguib, T. S. Sundareshan and Dr. D. S. Krishna Murthy

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370717

    14. First trimester maternal serum α-fetoprotein screening for Down syndrome and other aneuploidies (pages 89–90)

      Dr. Med. Dorothee Wenger, Peter Miny, Wolfgang Holzgreve, Walter Fuhrmann and Klaus Altland

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370718

    15. Down syndrome: Toward a molecular definition of the phenotype (pages 91–97)

      Julie R. Korenberg, Hiroko Kawashima, Stefan M.-Pulst, Leland Allen, Ellen Magenis and Charles J. Epstein

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370719

    16. Down syndrome critical region around D21S55 on proximal 21q22.3 (pages 98–103)

      Zohra Rahmani, Jean-Louis Blouin, Nicole Créau-Goldberg, Paul C. Watkins, Jean-François Mattei, Marc Poissonnier, Marguerite Prieur, Zoubida Chettouh, Annie Nicole, Alain Aurias, Pierre-Marie Sinet and Jean-Maurice Delabar

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370720

    17. Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q (pages 104–109)

      Michael B. Petersen, Lisbeth Tranebjaerg, Mary Kay McCormick, Niels Michelsen, Margareta Mikkelsen and Stylianos E. Antonarakis

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370721

    18. Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11–q22) lacking the classical Down syndrome phenotype (pages 110–114)

      Charles A. Williams, Jaime L. Frias, Mary Kay McCormick, Stylianos E. Antonarakis and Eduardo S. Cantu

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370722

    19. Recombination-Based screening for genes on chromosome 21 (pages 115–119)

      Gordon D. Stewart and David M. Kurnit

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370723

    20. Potential gene sequence isolation and regional mapping in human chromosome 21 (pages 120–124)

      Christina Brahe, Flora Tassone, Athos Millington-Ward, Angelo Serra and Katheleen Gardiner

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370724

    21. Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies (pages 125–128)

      Christina Brahe, Flora Tassone, Alessandra Moscetti, Athos Millington-Ward, Renato Bova and Angelo Serra

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370725

    22. Origin of extra chromosome 21 in 343 families: Cytogenetic and molecular approaches (pages 129–132)

      Dr. F. Dagna Bricarelli, M. Pierluigi, M. Grasso, P. Strigini and L. Perroni

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370726

    23. Study of the origin of nondisjunction in a family with two cases of Down syndrome using cytogenetic and molecular polymorphisms (pages 133–136)

      Piet Stinissen, Bernadette Van Roy, Guy Van Camp, Hubert Backhovens, Peter Partoens, Anita Wehnert, Heidi Verniers, Jan Dumon, Antoon Vandenberghe and Dr. Christine Van Broeckhoven

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370727

    24. Panel of aneuploid cell lines for physical mapping of the proximal long arm of human chromosome 21 (pages 137–140)

      Stefan-Matthias Pulst and Julie R. Korenberg

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370728

  4. Cytogenetics-Nondisjunction

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Crossing over and chromosome 21 nondisjunction: A study of 60 families (pages 141–147)

      L. Perroni, Dr. F. Dagna Bricarelli, M. Grasso, M. Pierluigi, M. Baldi, C. Pedemonte and P. Strigini

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370729

    2. Chiasma-based genetic maps of chromosome 21 (pages 148–154)

      Maj Hultén, N. Martin Lawrie and David A. Laurie

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370730

    3. Effect of X-rays on chromosome 21 nondisjunction (pages 155–159)

      Dr. P. Strigini, M. Pierluigi, G. L. Forni, R. Sansone, S. Carobbi, M. Grasso and F. Dagna Bricarelli

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370731

    4. The origin of aneuploidy: Bivalent instability and the maternal age effect in trisomy 21 Down syndrome (pages 160–161)

      M. A. Hultén

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370732

    5. Pericentric inversion of chromosome 9: Prevalence in 300 Down syndrome families and molecular studies of nondisjunction (pages 162–168)

      Prof. A. Serra, C. Brahe, A. Millington-Ward, G. Neri, B. Tedeschi, F. Tassone and R. Bova

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370733

    6. Acrocentric chromosome double NOR is not a risk factor for Down syndrome (pages 169–174)

      Angelo Serra and Renato Bova

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370734

    7. Nondisjunction of chromosome 21 (pages 175–181)

      Norma Takaesu, Patricia A. Jacobs, Annette Cockwell, R. Dwain Blackston, Sallie Freeman, Jelica Nuccio, David M. Kurnit, Irene Uchida, Viola Freeman and Terry Hassold

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370735

    8. Free proximal trisomy 21 in the mother and malformation syndrome in the son (pages 182–185)

      Fiorella S. Shabtai, Ariel Schwartz, Dvora Klar, Jacob Hart, Hanna Dar, Elen Kessler and Lsaac Halbrecht

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370736

    9. Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks (pages 186–188)

      Dr. E. S. Sachs, M. G. J. Jahoda, F. J. Los, L. Pijpers and J. W. Wladimiroff

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370737

    10. Brief communication: Frequency of 47,+21 in cells of blood cultures from couples with habitual spontaneous abortion (pages 189–191)

      Dr. Arabella Smith, Margaret Cohen and Robin Murray

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370738

    11. Chromosome fragile sites in Down syndrome patients (pages 192–194)

      Dr. Bruna Tedeschi, Patrizia Vernole, Daniela Caporossi and Benedetto Nicoletti

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370739

    12. Distribution of X-Ray-induced chromosome breakpoints in Down syndrome lymphocytes (pages 195–200)

      Hasnaa M. Shafik, Dr. William W. Au, Elbert B. Whorton Jr. and Marvin S. Legator

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370740

    13. Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents (pages 201–203)

      Dr. G. Palka, M. Ciccotelli, G. Sabatino, G. Calabrese, P. Guanciali Franchi, L. Stuppia, G. Parruti, C. Di Virgilio and O. Di Sante

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370741

  5. Hematology-Immunology

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Immunology of Down syndrome: A review (pages 204–212)

      Alberto G. Ugazio, Rita Maccario, Luigi D. Notarangelo and G. Roberto Burgio

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370742

    2. Precocious aging of the immune system in Down syndrome: Alteration of b lymphocytes, T-lymphocyte subsets, and cells with natural killer markers (pages 213–218)

      Andrea Cossarizza, Daniela Monti, Giuliano Montagnani, Claudio Ortolani, Massimo Masi, Maria Zannotti and Prof. Claudio Franceschi

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370743

    3. Intrathymic deficient expansion of T cell precursors in Down syndrome (pages 219–224)

      Piero Musiani, Salvatore Valitutti, Flora Castellino, Luigi M. Larocca, Nicola Maggiano and Mauro Piantelli

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370744

    4. Morphological and immunohistochemical study of Down syndrome thymus (pages 225–230)

      Luigi M. Larocca, Libero Lauriola, Franco O. Ranelletti, Mauro Piantelli, Nicola Maggiano, Riccardo Ricci and Arnaldo Capelli

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370745

    5. Letter to the editor: Humoral immunodeficiencies in Down syndrome: Serum IgG subclass and antibody response to hepatitis B vaccine (pages 231–233)

      Maria A. Avanzini, Virginia Monafo, Mara De Amici, Giuseppe R. Burgio, Alessandro Plebani, Alberto G. Ugazio and Lars A. Hanson

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370746

    6. Decreased level of T cell receptor expression by Down syndrome (trisomy 21) thymocytes (pages 234–237)

      Marianne Murphy, Marcia J. Lempert and Lois B. Epstein

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370747

    7. Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome (pages 238–241)

      Roberto T. Zori, Desmond A. Schatz, Harry Ostrer, Charles A. Williams, Rebecca Spillar and William J. Riley

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370748

    8. Derangement of non-specific immunity in Down syndrome subjects: Low leukocyte chemiluminescence activity after phagocytic activation (pages 242–246)

      Prof. Federico Licastro, Cristina Melotti, Raffaele Parente, Lizabeth Jane Davis, Mariella Chiricolo, Maria Zannotti and Francesco Barboni

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370749

    9. Hematologic disorders in 13 patients with acquired trisomy 21 and 13 individuals with Down syndrome (pages 247–250)

      Gordon W. Dewald, Jose L. Diez-Martin, Sara L. Steffen, Robert B. Jenkins, Peggy J. Stupca and E. Omer Burgert Jr.

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370750

    10. ETS family of genes in leukemia and Down syndrome (pages 251–261)

      Dr. Takis S. Papas, Dennis K. Watson, Nicoletta Sacchi, Shigeyoshi Fujiwara, Arun K. Seth, Robert J. Fisher, Narayan K. Bhat, George Mavrothalassitis, Shigeki Koizumi, Cheryl L. Jorcyk, Clifford W. Schweinfest, Stavros D. Kottaridis and Richard Ascione

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370751

    11. Trisomy 21 in neoplastic cells (pages 262–266)

      F. Mitelman, S. Heim and N. Mandahl

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370752

    12. Clinical and bilogical characteristics of acute lymphocytic leukemia in children with Down syndrome (pages 267–271)

      David K. Kalwinsky, Susana C. Raimondi, Nancy J. Bunin, Diane Fairclough, Ching-Hon Pui, Mary V. Relling, Raul Ribeiro and Gaston K. Rivera

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370753

    13. Erythrocyte antioxidant system in Down syndrome (pages 272–273)

      Giancarla Gerli, Luca Zenoni, Giovanni F. Locatelli, Renato Mongiat, Franca Piattoni, Giovan B. Orsini, Alessandro Montagnani, Maria R. Gueli and Valter Gualandri

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370754

  6. Neurology

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis (pages 274–281)

      K. E. Wisniewski

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370755

    2. Neuropathology of Down syndrome and Alzheimer disease (pages 282–286)

      Linda C. Cork

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370756

    3. Ultrastructure of the cells forming amyloid fibers in Alzheimer disease and scrapie (pages 287–297)

      H. M. Wisniewski, A. W. Vorbrodt, J. Wegiel, J. Morys and A. S. Lossinsky

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370757

    4. Seizures in patients with trisomy 21 (pages 298–300)

      Corrado Romano, Alessandra Tiné, Grazia Fazio, Renata Rizzo, Rosa Maria Colognola, Giovanni Sorge, Paolo Bergonzi and Lorenzo Pavone

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370758

    5. Autoradiographic studies of neurotransmitter receptors in the brain of newborn infants with Down syndrome (pages 301–305)

      Jesús Flórez, Carmen del Arco, Antonio González, Julio Pascual and Angel Pazos

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370759

    6. Prevalence of dementia in adult patients with trisomy 21 (pages 306–308)

      Massimo Franceschi, Mauro Comola, Franca Piattoni, Walter Gualandri and Nicola Canal

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370760

    7. Observations on the visual-perceptual abilities and adaptive behavior in adults with Down syndrome (pages 309–313)

      Nila Saviolo-Negrin, Salvatore Soresi, Carlo Baccichetti, Giovanni Pozzan and Edi Trevisan

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370761

  7. Social

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Down syndrome children and their families (pages 314–316)

      Ann Gath

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370762

    2. Quality of life of adults with trisomy 21 living in mental retardation homes compared with those staying under parental care (pages 317–321)

      Prof. Dr. med. T. M. Schroeder-Kurth, G. Schaffert, W. Koeckritz and M. Kernich

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370763

    3. Brief communication: Is the cultural approach toward down syndrome people changing? (pages 322–323)

      Carla Inglese

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370764

  8. Abstracts

    1. Top of page
    2. Masthead
    3. Introductions
    4. Pathogenesis-Clinical-Epidemiology
    5. Cytogenetics-Nondisjunction
    6. Hematology-Immunology
    7. Neurology
    8. Social
    9. Abstracts
    1. Abstracts (pages 324–325)

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370765

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