American Journal of Medical Genetics Part A

Cover image for Vol. 152A Issue 5

May 2010

Volume 152A, Issue 5

Pages C1–C1, fm i–fm x, 1063–1332

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. You have free access to this content
  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. You have free access to this content
      Communication with parents counts (pages fm vii–fm ix)

      Deborah Levenson

      Version of Record online: 22 APR 2010 | DOI: 10.1002/ajmg.a.33472

    2. You have free access to this content
      In this issue (page fm x)

      Version of Record online: 22 APR 2010 | DOI: 10.1002/ajmg.a.33473

  4. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
  5. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice (pages 1066–1078)

      Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

      Version of Record online: 7 APR 2010 | DOI: 10.1002/ajmg.a.33185

    2. The MECP2 duplication syndrome (pages 1079–1088)

      Melissa B. Ramocki, Y. Jane Tavyev and Sarika U. Peters

      Version of Record online: 2 APR 2010 | DOI: 10.1002/ajmg.a.33184

    3. Challenges in clinical interpretation of microduplications detected by array CGH analysis (pages 1089–1100)

      Pawel Stankiewicz, Amber N. Pursley and Sau Wai Cheung

      Version of Record online: 5 APR 2010 | DOI: 10.1002/ajmg.a.33216

    4. Genomic and clinical characteristics of microduplications in chromosome 17 (pages 1101–1110)

      Oleg A. Shchelochkov, S.W. Cheung and J.R. Lupski

      Version of Record online: 7 APR 2010 | DOI: 10.1002/ajmg.a.33248

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results (pages 1111–1126)

      Sung-Hae L. Kang, Chad Shaw, Zhishuo Ou, Patricia A. Eng, M. Lance Cooper, Amber N. Pursley, Trilochan Sahoo, Carlos A. Bacino, A. Craig Chinault, Pawel Stankiewicz, Ankita Patel, James R. Lupski and Sau Wai Cheung

      Version of Record online: 25 MAR 2010 | DOI: 10.1002/ajmg.a.33278

  7. Conference Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. You have free access to this content
      Cornelia de Lange syndrome: Extending the physical and psychological phenotype (pages 1127–1135)

      Chris Oliver, Maria Francesca Bedeschi, Natalie Blagowidow, Cheri S. Carrico, Anna Cereda, David R. FitzPatrick, Cristina Gervasini, Gemma M. Griffith, Antonie D. Kline, P. Marchisio, Joanna Moss, Feliciano J. Ramos, Angelo Selicorni, Penny Tunnicliffe, Jolanta Wierzba and Raoul C.M. Hennekam

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33363

  8. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
  9. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Mutation of CANT1 causes Desbuquois dysplasia (pages 1157–1160)

      Maha Faden, Fatema Al-Zahrani, Dia Arafah and Fowzan S. Alkuraya

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33404

    2. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia (pages 1169–1177)

      Natalia Camacho, Deborah Krakow, Sharlin Johnykutty, Philip J. Katzman, Samuel Pepkowitz, Joris Vriens, Bernd Nilius, Brendan F. Boyce and Daniel H. Cohn

      Version of Record online: 22 APR 2010 | DOI: 10.1002/ajmg.a.33392

    3. Polygenic inheritance of adolescent idiopathic scoliosis: A study of extended families in Utah (pages 1178–1188)

      Kenneth Ward, James Ogilvie, VeeAnn Argyle, Lesa Nelson, Mary Meade, John Braun and Rakesh Chettier

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33145

    4. Immunohistochemistry in non-immune hydrops fetalis: A single center experience in 79 fetuses (pages 1189–1196)

      Carlo Bellini, Ezio Fulcheri, Mariangela Rutigliani, Maria Grazia Calevo, Francesco Boccardo, Corradino Campisi, Eugenio Bonioli, Tommaso Bellini and Raoul C.M. Hennekam

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33191

    5. Linking MECP2 and pain sensitivity: The example of Rett syndrome (pages 1197–1205)

      Jenny Downs, Sandrine M. Géranton, Ami Bebbington, Peter Jacoby, Nadia Bahi-Buisson, David Ravine and Helen Leonard

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33314

    6. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy (pages 1206–1212)

      Anne Marie Ottesen, Lise Aksglaede, Inger Garn, Nicole Tartaglia, Flora Tassone, Claus H. Gravholt, Anders Bojesen, Kaspar Sørensen, Niels Jørgensen, Ewa Rajpert-De Meyts, Tommy Gerdes, Anne-Marie Lind, Susanne Kjaergaard and Anders Juul

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33334

    7. Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1 (pages 1213–1224)

      Diana Mitter, Barbara Delle Chiaie, Hermann-Josef Lüdecke, Gabriele Gillessen-Kaesbach, Axel Bohring, Jürgen Kohlhase, Almuth Caliebe, Reiner Siebert, Albrecht Roepke, Maria A. Ramos-Arroyo, Beatriz Nieva, Björn Menten, Bart Loeys, Geert Mortier and Dagmar Wieczorek

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33344

    8. Family communication about genetic risk information: Particular issues for Duchenne muscular dystrophy (pages 1225–1232)

      Gillian Plumridge, Alison Metcalfe, Jane Coad and Paramjit Gill

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33364

    9. Molecular and clinical characterization of patients with overlapping 10p deletions (pages 1233–1243)

      Anna Lindstrand, Helena Malmgren, Annapia Verri, Elisa Benetti, Maud Eriksson, Ann Nordgren, Britt-Marie Anderlid, Irina Golovleva, Jacqueline Schoumans and Elisabeth Blennow

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33366

    10. Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion (pages 1244–1249)

      Pascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, Virginie Czernecki, Nathalie Drouot, Emmanuelle Apartis, Lydie Bürglen, Thierry Frebourg and Emmanuel Roze

      Version of Record online: 22 APR 2010 | DOI: 10.1002/ajmg.a.33369

    11. Consent for genetic research in the Framingham Heart Study (pages 1250–1256)

      Daniel Levy, Greta Lee Splansky, Nicolle K. Strand, Larry D. Atwood, Emelia J. Benjamin, Susan Blease, L. Adrienne Cupples, Ralph B. D'Agostino Sr., Caroline S. Fox, Margaret Kelly-Hayes, Greg Koski, Martin G. Larson, Karen M. Mutalik, Elizabeth Oberacker, Christopher J. O'Donnell, Patrice Sutherland, Maureen Valentino, Ramachandran S. Vasan, Philip A. Wolf and Joanne M. Murabito

      Version of Record online: 22 APR 2010 | DOI: 10.1002/ajmg.a.33377

  10. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
  11. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Hereditary multiple exostoses with spine involvement in a 4-year-old boy (pages 1264–1267)

      Navid Ezra, Beatrice Tetteh, Michael Diament, Adam J. Jonas and Patricia Dickson

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33345

    2. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features (pages 1268–1272)

      Arie Koifman, Annette Feigenbaum, Weimin Bi, Lisa G. Shaffer, Jill Rosenfeld, Susan Blaser and David Chitayat

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33319

    3. FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism (pages 1273–1277)

      Alzbeta Vazna, Zuzana Musova, Marketa Vlckova, Dhahuse Novotna, Lenka Dvorakova, Michal Hrdlicka, Marketa Havlovicova and Zdenek Sedlacek

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33352

    4. 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor (pages 1278–1282)

      Caroline Schluth-Bolard, Damien Sanlaville, Audrey Labalme, Marianne Till, Isabelle Morin, Renaud Touraine and Patrick Edery

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33316

    5. Wolf–Hirschhorn syndrome with improvement of renal function (pages 1283–1284)

      P. Ferrara, F. Del Bufalo, A. Nicoletti, V. Romano, A. Gatto, C. Leoni and G. Zampino

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33357

    6. A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes (pages 1285–1294)

      Stefania Gimelli, Jacqueline Chrast, Anwar Baban, Charlotte N. Henrichsen, Margherita Lerone, Orsetta Zuffardi, Giorgio Gimelli and Alexandre Reymond

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33365

    7. Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion (pages 1295–1299)

      Shobhit Madan, Suneeta Madan-Khetarpal, Sang C. Park, Urvashi Surti, Ariel L. Bailey, Juliann McConnell and Sameh S. Tadros

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33367

    8. Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3) (pages 1305–1309)

      Claudio Giacomozzi, Francesca Gullotta, Giovanni Federico, Isabella Colapietro, Anna Maria Nardone and Stefano Cianfarani

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33376

  12. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies (pages 1310–1313)

      Preeti Bakrania, Sibel A. Ugur Iseri, Alexander W. Wyatt, Dave J. Bunyan, Wayne W.K. Lam, Alison Salt, Jacqueline Ramsay, David O. Robinson and Nicola K. Ragge

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33239

    2. Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome (pages 1314–1317)

      A.L. Mosca, P. Callier, A. Masurel-Paulet, C. Thauvin-Robinet, N. Marle, M. Nouchy, F. Huet, D. Dipanda, A. De Paepe, P. Coucke, F. Mugneret and L. Faivre

      Version of Record online: 22 APR 2010 | DOI: 10.1002/ajmg.a.33254

    3. De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation (pages 1322–1325)

      Akira Nishimura, Yoko Hiraki, Hiroko Shimoda, Gen Nishimura, Hiromi Tadaki, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33371

    4. Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum (pages 1326–1327)

      Moira A. Crowley, Laura K. Conlin, Elaine H. Zackai, Matthew A. Deardorff, Brian D. Thiel and Nancy B. Spinner

      Version of Record online: 13 APR 2010 | DOI: 10.1002/ajmg.a.33375

  13. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Reply to Dr. Finsterer “Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction” (page 1330)

      Antonio Richieri-Costa, Dagma V.M. Abramides, Luciana P. Maximino, Celia M. Giacheti and Dionisia A.C. Lamonica

      Version of Record online: 16 MAR 2010 | DOI: 10.1002/ajmg.a.33116

  14. Errata

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. Research Articles
    8. Conference Reports
    9. Research Reviews
    10. Research Articles
    11. Invited Comments
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. You have free access to this content

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