American Journal of Medical Genetics Part A

Cover image for Vol. 152A Issue 6

June 2010

Volume 152A, Issue 6

Pages C1–C1, fm i–fm x, 1333–1603

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    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. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    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. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
    4. You have free access to this content
      In this issue (page fm x)

      Version of Record online: 20 MAY 2010 | DOI: 10.1002/ajmg.a.33536

  4. Rapid Publications

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations (pages 1333–1346)

      Tomoki Kosho, Noriko Miyake, Atsushi Hatamochi, Jun Takahashi, Hiroyuki Kato, Teruyoshi Miyahara, Yasuhiko Igawa, Hiroshi Yasui, Tadao Ishida, Kurahito Ono, Takashi Kosuda, Akihiko Inoue, Mohei Kohyama, Tadashi Hattori, Hirofumi Ohashi, Gen Nishimura, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima and Naomichi Matsumoto

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33498

  5. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia (pages 1347–1348)

      Akio Tanaka, Fanny Morice-Picard, Didier Lacombe, Nikoletta Nagy, Michihiro Hide, Alain Taïeb and John McGrath

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33455

  6. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. You have free access to this content
      A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population (pages 1349–1356)

      Kym M. Boycott, Chandree Beaulieu, Erik G. Puffenberger, D. Ross McLeod, Jillian S. Parboosingh and A. Micheil Innes

      Version of Record online: 28 APR 2010 | DOI: 10.1002/ajmg.a.33379

  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae (pages 1357–1371)

      Amaka Offiah, Benjamin Alman, Alberto S. Cornier, Philip F. Giampietro, Olivier Tassy, Angie Wade and Peter D. Turnpenny

      Version of Record online: 28 APR 2010 | DOI: 10.1002/ajmg.a.33361

  8. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Lumbocostovertebral syndrome in an infant of a diabetic mother (pages 1374–1377)

      Nurullah Okumus, Ahmet Yagmur Bas, Nihal Demirel, Aysegul Zenciroglu, Sara Surmeli and Serdar Ceylaner

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33465

    2. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG (pages 1378–1382)

      Zoran S. Gucev, Velibor Tasic, Nada Pop-Jordanova, Duncan B. Sparrow, Sally L. Dunwoodie, Sian Ellard, Elizabeth Young and Peter D. Turnpenny

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33471

  10. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit (pages 1383–1389)

      Usha Kini, Jane A. Hurst, Jo C. Byren, Steven A. Wall, David Johnson and Andrew O.M. Wilkie

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33435

    2. CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms (pages 1390–1397)

      Valeria Romanelli, Alberta Belinchón, Sara Benito-Sanz, Victor Martínez-Glez, Ricardo Gracia-Bouthelier, Karen E. Heath, Angel Campos-Barros, Sixto García-Miñaur, Luís Fernandez, Heloisa Meneses, Juan Pedro López-Siguero, Encarna Guillén-Navarro, Paulino Gómez-Puertas, Jan-Jaap Wesselink, Graciela Mercado, Victoria Esteban-Marfil, Rebeca Palomo, Rocío Mena, Aurora Sánchez, Miguel del Campo and Pablo Lapunzina

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33453

    3. Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients (pages 1398–1410)

      Linda Siggberg, Sirpa Ala-Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius and Sakari Knuutila

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33402

    4. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy (pages 1411–1419)

      A.M. Lehman, P. Eydoux, D. Doherty, I.A. Glass, D. Chitayat, B.Y.H. Chung, S. Langlois, S.L. Yong, R.B. Lowry, F. Hildebrandt and P. Trnka

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33416

    5. Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys (pages 1420–1427)

      MariaGiulia Torrioli, Silvia Vernacotola, Chiara Setini, Francesca Bevilacqua, Diego Martinelli, Mike Snape, Julie A Hutchison, Francesca Romana Di Raimo, Elisabetta Tabolacci and Giovanni Neri

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33484

    6. Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers (pages 1428–1433)

      Duck Sung Ko, Jae Won Cho, So Yeon Park, Jin Young Kim, Mi Kyoung Koong, In Ok Song, Inn Soo Kang and Chun Kyu Lim

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33368

    7. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes (pages 1434–1442)

      Francesca Romana Grati, Andrea Barlocco, Beatrice Grimi, Silvia Milani, Giuditta Frascoli, Anna Maria Di Meco, Rosaria Liuti, Anna Trotta, Sara Chinetti, Francesca Dulcetti, Anna Maria Ruggeri, Simona De Toffol, Maurizio Clementi, Federico Maggi and Giuseppe Simoni

      Version of Record online: 28 APR 2010 | DOI: 10.1002/ajmg.a.33370

    8. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations (pages 1443–1449)

      Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Megarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae-Joon Cho, Francesca Bedeschi, Francesco Benedicenti, Roberto Mendoza-Londono, Margherita Silengo, Maren Schmidt-Rimpler, Jurgen Spranger, Bernhard Zabel, Shiro Ikegawa and Andrea Superti-Furga

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33414

    9. Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation (pages 1458–1466)

      Laura E. Forrest, Martin B. Delatycki, Lisette Curnow, Loane Skene and MaryAnne Aitken

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33385

    10. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion (pages 1467–1473)

      Irene Bottillo, Isabella Torrente, Valentina Lanari, Valentina Pinna, Sandra Giustini, Luigina Divona, Alessandro De Luca and Bruno Dallapiccola

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33386

    11. Chediak–Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1 (pages 1474–1483)

      Irini Manoli, Gretchen Golas, Wendy Westbroek, Thierry Vilboux, Thomas C. Markello, Wendy Introne, Dawn Maynard, Ben Pederson, Ekaterini Tsilou, Michael B. Jordan, P. Suzanne Hart, James G. White, William A. Gahl and Marjan Huizing

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33389

    12. Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15) (pages 1484–1487)

      Thomas Eggermann, Sabrina Spengler, Nadine Bachmann, Michael Baudis, Ulrike A. Mau-Holzmann, Sylke Singer and Eva Rossier

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33398

    13. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (pages 1488–1497)

      Annemieke J.M.H. Verkerk, Rachel Schot, Laura van Waterschoot, Hannie Douben, Pino J. Poddighe, Maarten H. Lequin, Linda S. de Vries, Paulien Terhal, Johanne M.D. Hahnemann, Irenaeus F.M. de Coo, Marie-Claire Y. de Wit, Leontien S. Wafelman, Livia Garavelli, William B. Dobyns, Peter J. Van der Spek, Annelies de Klein and Grazia M.S. Mancini

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33408

    14. The course of cognitive-behavioral development in children with the FMR1 mutation, Williams–Beuren syndrome, and neurofibromatosis type 1: The effect of gender (pages 1498–1509)

      Gene S. Fisch, Nancy Carpenter, Patricia N. Howard-Peebles, Jeanette J.A. Holden, Jack Tarleton and Richard Simensen

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33412

  11. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis (pages 1510–1514)

      S. Marlin, H. Ducou Le Pointe, M. Le Merrer, M.F. Portnoi, S. Chantot, L. Jonard, A. Mantel-Guiochon, J.P. Siffroi, E.N. Garabedian and F. Denoyelle

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33242

    2. Phenotype–genotype correlation of a patient with a “balanced” translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion (pages 1515–1522)

      Eleftheria Papadopoulou, Carolina Sismani, Christodoulos Christodoulou, Marios Ioannides, Maria Kalmanti and Philippos Patsalis

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33302

    3. Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome (pages 1523–1530)

      Andrea L. Gropman, Alan Rogol, Ilene Fennoy, Teresa Sadeghin, Stephanie Sinn, Robert Jameson, Francine Mitchell, Jaye Clabaugh, Margaret Lutz-Armstrong and Carole A. Samango-Sprouse

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33307

    4. Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery (pages 1531–1535)

      R. Neil Schimke, Debra L. Collins and Catherine A. Stolle

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33384

    5. Kabuki syndrome and cancer in two patients (pages 1536–1539)

      Manuela Tumino, Maria Licciardello, Giovanni Sorge, Maria Concetta Cutrupi, Fabrizio Di Benedetto, Loredana Amoroso, Roberta Catania, Monica Pennisi, Salvatore D'Amico and Andrea Di Cataldo

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33405

    6. Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation (pages 1540–1544)

      Sabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, Thorsten Schmidt, Jan Senderek, Thomas Eggermann and Klaus Zerres

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33387

    7. Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia (pages 1545–1549)

      Benjamin D. Solomon, Eileen Lange, Jay Shubrook, F. John Service, Gail Herman, Rajaram J. Karne, Phillip Gorden, Maximilian Muenke and Constantine A. Stratakis

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33395

    8. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy (pages 1550–1554)

      Bertrand Isidor, Sabine Baron, Philippe Khau van Kien, Anne-Marie Bertrand, Albert David and Martine Le Merrer

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33397

    9. Subtelomeric deletion of 12p: Description of a third case and review (pages 1561–1566)

      A.H. MacDonald, L. Rodríguez, I. Aceña, M.L. Martínez-Fernández, D. Sánchez-Izquierdo, E. Zuazo and M.L. Martínez-Frías

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33401

    10. Duplication 16p11.2 in a child with infantile seizure disorder (pages 1567–1574)

      Jirair K. Bedoyan, Ravinesh A. Kumar, Jyotsna Sudi, Faye Silverstein, Todd Ackley, Ramaswamy K. Iyer, Susan L. Christian and Donna M. Martin

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33415

    11. Multiple malignant diseases in a patient with Rothmund–Thomson syndrome with RECQL4 mutations: Case report and literature review (pages 1575–1579)

      T. Simon, J. Kohlhase, C. Wilhelm, M. Kochanek, B. De Carolis and F. Berthold

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33427

  12. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. A case of Down syndrome with mirror-image duplication of chromosome 21 (pages 1580–1582)

      Ha Thi Minh Thi, Nguyen Viet Nhan, Noralane M. Lindor, Reid G. Meyer, Ruhi Rai and Gopalrao V.N. Velagaleti

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33326

    2. Isolated unilateral vestibular schwannomas do not harbor HRAS mutations (pages 1586–1587)

      Miriam J. Smith, Kristen D. Hadfield, Richard T. Ramsden, Scott A. Rutherford, Andrew T. King, William G. Newman and D. Gareth Evans

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33409

    3. Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia (pages 1588–1590)

      Kanwal Qidwai, David M. Pearson, Gayle Simpson Patel, Barbara R. Pober, LaDonna L. Immken, Sau Wai Cheung and Daryl A. Scott

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33410

    4. MECP2 duplication in a patient with congenital central hypoventilation (pages 1591–1593)

      Elga F. Belligni, Rodger W. Palmer and Raoul C.M. Hennekam

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33311

    5. A physician survey regarding diagnostic variability among birth defects (pages 1594–1598)

      Peter H. Langlois, Shane U. Sheu and Angela E. Scheuerle

      Version of Record online: 14 MAY 2010 | DOI: 10.1002/ajmg.a.33413

  13. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. Update on “Two Siblings With Alternate Unbalanced Recombinants Derived From a Large Cryptic Maternal Pericentric Inversion of Chromosome 20” (page 1599)

      Cheryl DeScipio, Jennifer D. Morrissette, Laura K. Conlin, Dinah Clark, Maninder Kaur, James Coplan, Harold Riethman, Nancy B. Spinner and Ian D. Krantz

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33390

    2. Central flaring of eyebrow (page 1600)

      Matthias Möhrenschlager, Johannes Ring and Roger Lauener

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33396

    3. Response to central flaring of eyebrow by Mohrenschlager et al. (page 1601)

      Bryan D. Hall and Raoul C.M. Hennekam

      Version of Record online: 11 MAY 2010 | DOI: 10.1002/ajmg.a.33388

  14. Errata

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. Research Letters
    7. New Syndrome
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Errata
    1. You have free access to this content
      Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25–q31.1)” [Am J Med Genet Part A 152A:977–981] (pages 1602–1603)

      Lilia Moreira, Albert Schinzel, Alessandra Baumer, Paula Pinto, Fátima Góes, Maria de Lourdes Falcao, Ana Luiza Barbosa and Mariluce Riegel

      Version of Record online: 20 MAY 2010 | DOI: 10.1002/ajmg.a.33467

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