American Journal of Medical Genetics Part A

Cover image for Vol. 155 Issue 4

April 2011

Volume 155, Issue 4

Pages C1–C1, fm i–fm x, 667–942

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    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. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    1. You have free access to this content
  4. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    1. You have free access to this content
      Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? (pages 667–672)

      Christopher Anderson, Justin H. Davies, Lilias Lamont and Nicola Foulds

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33897

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    1. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C (pages 706–716)

      Karen W. Gripp, Elizabeth Hopkins, Katia Sol-Church, Deborah L. Stabley, Marni E. Axelrad, Daniel Doyle, William B. Dobyns, Cindy Hudson, John Johnson, Romano Tenconi, Gail E. Graham, Ana Berta Sousa, Raoul Heller, Maria Piccione, Giovanni Corsello, Gail E. Herman, Marco Tartaglia and Angela E. Lin

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33884

    2. 5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects (pages 725–731)

      Sylvie Jaillard, Joris Andrieux, Ghislaine Plessis, Ana C.V. Krepischi, Josette Lucas, Véronique David, Marine Le Brun, Debora R. Bertola, Albert David, Marc-Antoine Belaud-Rotureau, Jean Mosser, Leila Lazaro, Catherine Treguier, Carla Rosenberg, Sylvie Odent and Christèle Dubourg

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33758

    3. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination (pages 732–736)

      Keiko Shimojima, Bertrand Isidor, Cédric Le Caignec, Akiko Kondo, Shinji Sakata, Kousaku Ohno and Toshiyuki Yamamoto

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33891

    4. Study newsletters, community and ethics advisory boards, and focus group discussions provide ongoing feedback for a large biobank (pages 737–741)

      Catherine A. McCarty, Ann Garber, Jonathan C. Reeser, Norman C. Fost and For the Personalized Medicine Research Project Community Advisory Group and Ethics and Security Advisory Board

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33896

    5. Ehlers–Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree (pages 742–747)

      Eyal Reinstein, Raymond Y. Wang, Ling Zhan, David L. Rimoin and William R. Wilcox

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33914

    6. An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses (pages 748–756)

      Angela E. Lin, Kathryn E. Singh, Arthur Strauss, Son Nguyen, Kristyn Rawson and Virginia E. Kimonis

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33934

    7. UPD detection using homozygosity profiling with a SNP genotyping microarray (pages 757–768)

      Peter Papenhausen, Stuart Schwartz, Hiba Risheg, Elisabeth Keitges, Inder Gadi, Rachel D. Burnside, Vikram Jaswaney, John Pappas, Romela Pasion, Kenneth Friedman and James Tepperberg

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33939

    8. Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature (pages 769–777)

      Fortunato Lonardo, Lucia Perone, Marianna Maioli, Maria Ciavarella, Roberto Ciccone, Matteo Della Monica, Cinzia Lombardi, Luisa Forino, Giuseppina Cantalupo, Lucia Masella and Francesca Scarano

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33852

    9. An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests (pages 778–785)

      Carlo Castellani, Sandra Perobelli, Vera Bianchi, Manuela Seia, Paola Melotti, Luisa Zanolla, Baroukh Maurice Assael and Faustina Lalatta

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33870

  6. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    1. Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome (pages 805–810)

      Joseph F. Cubells, Elizabeth H. DeOreo, Philip D. Harvey, Steven J. Garlow, Kathryn Garber, Margaret P. Adam and Christa Lese Martin

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33917

    2. Congenital isolated leukonychia totalis in three Egyptian sibs (pages 811–814)

      Hanan H. Afifi, Mahmoud F. Abdel-Hamid and Maha S. Zaki

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33907

    3. Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume (pages 815–818)

      Gaël Nicolas, Didier Devys, Alice Goldenberg, David Maltête, Catherine Hervé, Didier Hannequin and Lucie Guyant-Maréchal

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33911

    4. Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature (pages 825–832)

      Marilena Petti, Joy Samanich, Qiulu Pan, Chih-Kang Huang, Jana Reinmund, Sadaf Farooqi, Bernice Morrow and Melanie Babcock

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33869

    5. A deletion 13q34/duplication 14q32.2–14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia (pages 833–839)

      Philip D. Pallister, Adam B. Pallister, Sarah South, Reha Toydemir, John P. Johnson, Linda Beischel and John M. Opitz

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33876

    6. Infantile cardioencephalopathy due to a COX15 gene defect: Report and review (pages 840–844)

      Majid Alfadhel, Yolanda P. Lillquist, Paula J. Waters, Graham Sinclair, Eduard Struys, Deborah McFadden, Glenda Hendson, Lauren Hyams, John Shoffner and Hilary D. Vallance

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33881

    7. Spondylometaphyseal dysplasia with cone-rod dystrophy (pages 845–849)

      Hiroshi Kitoh, Hiroshi Kaneko, Mineo Kondo, Toshiyuki Yamamoto, Naoki Ishiguro and Gen Nishimura

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33898

    8. Evidence for autosomal dominant inheritance of ablepharon–macrostomia syndrome (pages 850–854)

      Luis Rohena, Devon Kuehn, Shannon Marchegiani and Jason D Higginson

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33900

    9. Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2 (pages 860–864)

      Nilrat Wannasilp, Benjamin D. Solomon, Nicole Warren-Mora, Nancy J. Clegg, Mauricio R. Delgado, Felicitas Lacbawan, Ping Hu, Thomas L. Winder, Erich Roessler and Maximilian Muenke

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33903

    10. Pulmonary manifestations in Proteus syndrome: Pulmonary varicosities and bullous lung disease (pages 865–869)

      Gye-Yeon Lim, Ok-Hwa Kim, Hyun Woo Kim, Ki Seok Lee, Kyung Hee Kang, Hae-Ryong Song and Tae-Joon Cho

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33926

    11. Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series (pages 870–874)

      Naomi Yachelevich, Julia Klein Gittler, Susan Klugman, Barbara Feldman, Joanna Martin, Susan Sklower Brooks, Carl Dobkin and Sarah L. Nolin

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33936

    12. A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene (pages 875–879)

      Kristiina Avela, Katja Aktan-Collan, Nina Horelli-Kuitunen, Sakari Knuutila and Mirja Somer

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33944

    13. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? (pages 880–884)

      Aimé Ravel, Eliane Chouery, Samantha Stora, Nadine Jalkh, Laurent Villard, Samia Temtamy and André Mégarbané

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33879

    14. Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication (pages 885–891)

      Bob Argiropoulos, Melissa Carter, Kathy Brierley, Heather Hare, Amélie Bouchard, Walla Al-Hertani, Shannon R. Ryan, Judith Reid, Mark Basik, Jean McGowan-Jordan and Gail E. Graham

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33918

    15. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX (pages 892–897)

      Valerio Conti, Carla Marini, Simone Gana, Jyotsna Sudi, William B. Dobyns and Renzo Guerrini

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33923

    16. AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome (pages 898–902)

      Monica L. Marvin, Serina M. Mazzoni, Casey M. Herron, Sean Edwards, Stephen B. Gruber and Elizabeth M. Petty

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33927

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    1. Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion (pages 903–905)

      Rika Kosaki, Hideki Fujita, Katsuhiko Ueoka, Chiharu Torii and Kenjiro Kosaki

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33835

    2. Mutational analysis of PACT gene in Chinese patients with microtia (pages 906–910)

      Lin Lin, Bo Pan, Haiyue Jiang, Hongxing Zhuang, Yanyong Zhao, Dongjun Guo and Dashan Yu

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.32821

    3. Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature (pages 911–914)

      Nicola Specchio, Antonio Carotenuto, Marina Trivisano, Simona Cappelletti, Cristina Digilio, Rossella Capolino, Matteo Di Capua, Lucia Fusco and Federico Vigevano

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33899

    4. Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation (pages 915–919)

      Laura Rodríguez, Julián Nevado, Elena Vallespin, María Palomares, Luz Golmayo, María Clara Bonaglia, Alicia Delicado and Elena Abarca

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33924

    5. An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy (pages 920–923)

      Gerald Raymond, Elizabeth Wohler, Carolyn Dinsmore, Jeanne Cox, Michael Johnston, Denise Batista and Tao Wang

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33929

    6. Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family (pages 924–927)

      Helena Simões-Teixeira, Tiago D. Matos, Marta Canas Marques, Óscar Dias, Mário Andrea, Eduardo Barreiros, Luís Barreiros, Felipe Moreno, Graça Fialho, Helena Caria and Ignacio del Castillo

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33740

    7. Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia (pages 928–930)

      Paolo Prontera, Gabriela Stangoni, Carmela Ardisia, Daniela Rogaia, Amedea Mencarelli and Emilio Donti

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33817

    8. A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby (pages 931–934)

      Gwo-Chin Ma, Yu-Yuan Ke, Shun-Ping Chang, Dong-Jay Lee and Ming Chen

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33834

  9. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    1. A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX (pages 935–937)

      S. Benito-Sanz, A. Aragones, R. Gracia, A. Campos-Barros and K.E. Heath

      Version of Record online: 17 MAR 2011 | DOI: 10.1002/ajmg.a.33872

    2. A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX (pages 938–939)

      Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich and Valérie Cormier-Daire

      Version of Record online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33871

  10. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    11. Corrigenda
    1. You have free access to this content
      Corrigendum (page 942)

      Francesco Benedicenti

      Version of Record online: 24 MAR 2011 | DOI: 10.1002/ajmg.a.33304

      This article corrects:

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