American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

April 2012

Volume 158A, Issue 4

Pages C1–C1, fm i–fm v, vii–x, 695–968

  1. Cover Image

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

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

      Version of Record online: 26 MAR 2012 | DOI: 10.1002/ajmg.a.35350

  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    1. A phenotype map for 14q32.3 terminal deletions (pages 695–706)

      Hartmut Engels, Herdit M. Schüler, Alexander M. Zink, Eva Wohlleber, Antje Brockschmidt, Alexander Hoischen, Matthias Drechsler, Jennifer A. Lee, Kerstin U. Ludwig, Christian Kubisch, Gesa Schwanitz, Ruthild G. Weber, Barbara Leube, Raoul C. M. Hennekam, Sabine Rudnik-Schöneborn, Martina Kreiß-Nachtsheim and Heiko Reutter

      Version of Record online: 24 FEB 2012 | DOI: 10.1002/ajmg.a.35256

    2. Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome (pages 713–719)

      Roksana Armani, Hayley Archer, Angus Clarke, Pradeep Vasudevan, Christiane Zweier, Gladys Ho, Sarah Williamson, Desiree Cloosterman, Nan Yang and John Christodoulou

      Version of Record online: 1 MAR 2012 | DOI: 10.1002/ajmg.a.34206

    3. Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients (pages 720–725)

      Karina Meden Sørensen, Milad El-Segaier, Eva Fernlund, Ab Errami, Patrice Bouvagnet, Nancy Nehme, Jesper Steensberg, Vibeke Hjortdal, Maria Soller, Mohaddeseh Behjati, Thomas Werge, Maria Kirchoff, Jan Schouten, Niels Tommerup, Paal Skytt Andersen and Lars Allan Larsen

      Version of Record online: 1 MAR 2012 | DOI: 10.1002/ajmg.a.35214

    4. A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain (pages 726–731)

      Ching-Hsuan Hu, Yu-Fan Liu, Ju-Shan Yu, Yan-Yan Ng, Suh-Jen Chen, Pen-Hua Su and Jia-Yuh Chen

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35216

    5. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system (pages 732–742)

      Rafael Denadai, Cassio E. Raposo-Amaral, Débora Bertola, Chong Kim, Nivaldo Alonso, Thomas Hart, Sangwoo Han, Rafael F. Stelini, Celso L. Buzzo, Cesar A. Raposo-Amaral and P. Suzanne Hart

      Version of Record online: 1 MAR 2012 | DOI: 10.1002/ajmg.a.35228

    6. Prenatal testing for Down syndrome: The perspectives of parents of individuals with Down syndrome (pages 743–750)

      Angela Inglis, Catriona Hippman and Jehannine C. Austin

      Version of Record online: 21 FEB 2012 | DOI: 10.1002/ajmg.a.35238

    7. Risk factors for nonsyndromic holoprosencephaly: A Manitoba case–control study (pages 751–758)

      Simone S. Vaz, Bernard Chodirker, Chitra Prasad, Jamie A. Seabrook, Albert E. Chudley and Asuri N. Prasad

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35240

    8. Audiological findings in Williams syndrome: A study of 69 patients (pages 759–771)

      Stefania Barozzi, Daniela Soi, Elisabetta Comiotto, Anna Borghi, Chiara Gavioli, Emanuela Spreafico, Chiara Gagliardi, Angelo Selicorni, Stella Forti, Umberto Ambrosetti, Antonio Cesarani and Daniele Brambilla

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/ajmg.a.35241

    9. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing (pages 772–778)

      Eri Kondo, Takafumi Nishimura, Tomoki Kosho, Yuji Inaba, Satomi Mitsuhashi, Takefumi Ishida, Atsushi Baba, Kenichi Koike, Ichizo Nishino, Ikuya Nonaka, Toru Furukawa and Kayoko Saito

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35243

    10. Male sex bias in placental dysfunction (pages 779–783)

      Ally Murji, Leslie K. Proctor, Andrew D. Paterson, David Chitayat, Rosanna Weksberg and John Kingdom

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35250

    11. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts (pages 784–794)

      Min Shi, Jeffrey C. Murray, Mary L. Marazita, Ronald G. Munger, Ingo Ruczinski, Jacqueline B. Hetmanski, Tao Wu, Tanda Murray, Richard J. Redett, Allen J. Wilcox, Rolv T. Lie, Ethylin Wang Jabs, Yah Huei Wu-Chou, Philip K. Chen, Hong Wang, Xiaoqian Ye, Vincent Yeow, Samuel S. Chong, Bing Shi, Kaare Christensen, Alan F. Scott, Poorav Patel, Felicia Cheah and Terri H. Beaty

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35257

    12. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients (pages 795–802)

      Tae-Joon Cho, Kazu Matsumoto, Virginia Fano, Jin Dai, Ok-Hwa Kim, Jong Hee Chae, Won Joon Yoo, Yuji Tanaka, Yoshito Matsui, Iori Takigami, Soledad Monges, Bernhard Zabel, Katsuji Shimizu, Gen Nishimura, Ekkehart Lausch and Shiro Ikegawa

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35268

    13. The omega-6 fatty acid linoleic acid is associated with risk of gastroschisis: A novel dietary risk factor (pages 803–807)

      Lauren A. Weiss, Christina D. Chambers, Vanessa Gonzalez, Lee R. Hagey and Kenneth Lyons Jones

      Version of Record online: 7 FEB 2012 | DOI: 10.1002/ajmg.a.35204

  5. Research Reviews

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    1. Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum (pages 812–815)

      Toshiki Takenouchi, Mie Nakazawa, Yonehiro Kanemura, Sachiko Shimozato, Mami Yamasaki, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 21 FEB 2012 | DOI: 10.1002/ajmg.a.35245

    2. Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene (pages 816–820)

      Raquel M. Fernández, Rocío Núñez-Torres, Lutgardo García-Díaz, Juan Carlos de Agustín, Guillermo Antiñolo and Salud Borrego

      Version of Record online: 17 FEB 2012 | DOI: 10.1002/ajmg.a.35244

    3. Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature (pages 821–827)

      Ana C. Laus, Wagner A.R. Baratela, Lucimar A.F. Laureano, Silvio A. Santos, Jair Huber, Ester S. Ramos, Camila C. Rebelo, Jeremy A. Squire and Lucia Martelli

      Version of Record online: 21 FEB 2012 | DOI: 10.1002/ajmg.a.32988

    4. Clinical description of a patient carrying the smallest reported deletion involving 10p14 region (pages 832–835)

      Daniela Melis, Rita Genesio, Pasquale Boemio, Ennio Del Giudice, Gerarda Cappuccio, Angela Mormile, Valentina Ronga, Anna Conti, Floriana Imperati, Lucio Nitsch and Generoso Andria

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.34133

    5. Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation (pages 839–849)

      Matthew G. Butler, Susan L. Dagenais, José L. Garcia-Perez, Pascal Brouillard, Miikka Vikkula, Peter Strouse, Jeffrey W. Innis and Thomas W. Glover

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35229

  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    1. Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation (pages 850–855)

      N.C. Voermans, M. Kempers, M. Lammens, N. van Alfen, M.C. Janssen, C. Bönnemann, B.G. van Engelen and B.C. Hamel

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35232

  8. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    1. Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations (pages 856–860)

      D. Capalbo, D. Melis, L. De Martino, L. Palamaro, S. Riccomagno, G. Bona, V. Cordeddu, C. Pignata and M. Salerno

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35234

    2. Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature (pages 861–868)

      Mitsuo Motobayashi, Akira Nishimura-Tadaki, Yuji Inaba, Tomoki Kosho, Satoko Miyatake, Taemi Niimi, Takafumi Nishimura, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto and Kenichi Koike

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35235

    3. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients (pages 869–876)

      Gabriella P. Szabó, Alida C. Knegt, Anikó Ujfalusi, Erzsébet Balogh, Tamás Szabó and Éva Oláh

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35236

    4. Neonatal detection of 5p13.2 duplication and delineation of the phenotype (pages 877–881)

      M. Carmen Carrascosa Romero, Rosa García Hoyo, María Calvente, María Baquero Cano, Llanos González Castillo and Javier Suela

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35237

    5. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features (pages 882–887)

      Antonella Fabretto, Maria Santa Rocca, Maria Dolores Perrone, Aldo Skabar, Vanna Pecile and Paolo Gasparini

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35239

    6. You have full text access to this OnlineOpen article
      Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12–p13.13 deletion (pages 888–893)

      Giuseppe Marangi, Daniela Orteschi, Federico Vigevano, Jillian Felie, Christopher A. Walsh, M. Chiara Manzini and Giovanni Neri

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35254

    7. Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations (pages 894–900)

      Véronique Haddad, Azzedine Aboura, Lucie Tosca, Narjes Guediche, Anne-Elisabeth Mas, Aurore Coulomb L'Herminé, Luc Druart, Olivier Picone, Sophie Brisset and Gérard Tachdjian

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35258

    8. A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2–q22.1 with complex translocation t(8;20) in a family with intellectual disability (pages 901–908)

      Anunchai Assawamakin, Duangrurdee Wattanasirichaigoon, Chintana Tocharoentanaphol, Supaporn Waeteekul, Montakarn Tansatit, Wanna Thongnoppakhun and Chanin Limwongse

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35259

    9. Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7 (pages 909–916)

      Piranit Nik Kantaputra, Saranya Thawanaphong, Witchapong Issarangporn, Phennapha Klangsinsirikul, Atsushi Ohazama, Paul Sharpe and Chayarop Supanchart

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35264

    10. Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations (pages 917–921)

      Pamela Magini, Matteo Della Monica, Maria Luisa Giovannucci Uzielli, Patrizia Mongelli, Gloria Scarselli, Eleonora Gambineri, Gioacchino Scarano and Marco Seri

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35265

  9. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    1. Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype (pages 922–926)

      Aleksandra Jezela-Stanek, Marzena Kucharczyk, Magdalena Pelc, Krystyna H. Chrzanowska and Małgorzata Krajewska-Walasek

      Version of Record online: 17 FEB 2012 | DOI: 10.1002/ajmg.a.34440

    2. De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction (pages 927–931)

      Stefania Zampatti, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia Garavelli, Carlo Dionisi-Vici, Emanuele Agolini, Anita Wischmeijer, Eva Morava, Giuseppe Novelli, Johannes Häberle, Uwe Kornak and Francesco Brancati

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/ajmg.a.35231

    3. Acetazolamide for severe apnea in Pitt–Hopkins syndrome (pages 932–934)

      Stijn L. Verhulst, J. De Dooy, J. Ramet, N. Bockaert, R. Van Coster, B. Ceulemans and W. De Backer

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35247

    4. Complete monosomy 21 confirmed by FISH and array-CGH (pages 935–937)

      Anita S. Kulharya, Vijay S. Tonk, Carolyn Lovell and David B. Flannery

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35251

    5. Early-onset osteoarthritis in Ehlers–Danlos syndrome type VIII (pages 938–941)

      Eyal Reinstein, Mitchel Pariani, Ralph S. Lachman, Stephen Nemec and David L. Rimoin

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35261

    6. An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14) (pages 942–946)

      Jaime Toral-López, Beatriz Buentello-Volante, Marta M. Balderas-Minor, Carmen Amezcua-Herrera, Juan M. Valdes-Miranda, Luz Ma. González-Huerta, Marco Gudiño, Sergio A. Cuevas-Covarrubias and Juan Carlos Zenteno

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35262

  10. Research Reviews

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Research Reviews
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    1. Calcifying leukoencephalopathies: New overlapping phenotypes (pages 964–965)

      Simona Orcesi, Davide Tonduti and Roberta La Piana

      Version of Record online: 14 MAR 2012 | DOI: 10.1002/ajmg.a.35242

SEARCH

SEARCH BY CITATION