American Journal of Medical Genetics Part A

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Vol. 158A Issue 2

February 2012

Volume 158A, Issue 2

Pages C1–C1, fm i–fm iv, vii–x, 269–473

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. You have free access to this content
      American Journal of Medical Genetics Part A: Volume 158A, Number 2, February 2012 (page C1)

      Article first published online: 20 JAN 2012 | DOI: 10.1002/ajmg.a.35252

  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. You have free access to this content
      Table of Contents, Volume 158A, Number 2, February 2012 (pages fm i–fm iv)

      Article first published online: 20 JAN 2012 | DOI: 10.1002/ajmg.a.35253

  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. You have free access to this content
      Genetic culprit of rare autoinflammatory disorder confirmed (pages vii–viii)

      Article first published online: 20 JAN 2012 | DOI: 10.1002/ajmg.a.35225

    2. You have free access to this content
      Personalized medicine comes to cystic fibrosis (pages viii–ix)

      Article first published online: 20 JAN 2012 | DOI: 10.1002/ajmg.a.35226

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

      Article first published online: 20 JAN 2012 | DOI: 10.1002/ajmg.a.35227

  4. Rapid Communications

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. You have free access to this content
      Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis (pages 269–291)

      Ghayda M. Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman-Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham Jr and William B. Dobyns

      Article first published online: 6 JAN 2012 | DOI: 10.1002/ajmg.a.34402

  5. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations (pages 292–297)

      Grétel Oudesluijs, Marleen E.H. Simon, Rianne H.J. Burggraaf, Hans R. Waterham and Raoul C.M. Hennekam

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34396

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment (pages 298–308)

      Lauren J. Francey, Laura K. Conlin, Hanna E. Kadesch, Dinah Clark, Donna Berrodin, Yi Sun, Joe Glessner, Hakon Hakonarson, Chaim Jalas, Chaim Landau, Nancy B. Spinner, Margaret Kenna, Michal Sagi, Heidi L. Rehm and Ian D. Krantz

      Article first published online: 6 DEC 2011 | DOI: 10.1002/ajmg.a.34391

    2. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2 (pages 309–314)

      Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow and Daniel H. Cohn

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34406

    3. Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss (pages 315–321)

      Kwanghyuk Lee, Muhammad Ansar, Paula B. Andrade, Bushra Khan, Regie Lyn P. Santos-Cortez, Wasim Ahmad and Suzanne M. Leal

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34407

    4. Anthropometric charts for infants with trisomies 21, 18, or 13 born between 22 weeks gestation and term: The VON charts (pages 322–332)

      Nansi S. Boghossian, Jeffrey D. Horbar, Jeffrey C. Murray and Joseph H. Carpenter, for the Vermont Oxford Network

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34423

    5. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1 (pages 333–339)

      Estelle Lopez, Patrick Callier, Valérie Cormier-Daire, Didier Lacombe, Anne Moncla, Armand Bottani, Sandy Lambert, Alice Goldenberg, Bérénice Doray, Sylvie Odent, Damien Sanlaville, Lucie Gueneau, Laurence Duplomb, Frédéric Huet, Bernard Aral, Christel Thauvin-Robinet and Laurence Faivre

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34401

    6. Genotype–phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice (pages 340–350)

      Nicky S.J. Halbach, Eric E.J. Smeets, Noortje van den Braak, Kees E.P. van Roozendaal, Rien M.J. Blok, Constance T.R.M. Schrander-Stumpel, Jean-Pierre Frijns, Marian A. Maaskant and Leopold M.G. Curfs

      Article first published online: 21 DEC 2011 | DOI: 10.1002/ajmg.a.34418

    7. Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma (pages 351–357)

      Mamiko Endo, Katsunori Fujii, Katsuo Sugita, Kayoko Saito, Yoichi Kohno and Toshiyuki Miyashita

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34421

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      The behavioral phenotype of Mowat–Wilson syndrome (pages 358–366)

      Elizabeth Evans, Stewart Einfeld, David Mowat, John Taffe, Bruce Tonge and Meredith Wilson

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34405

    9. The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom (pages 367–372)

      Marion McAllister, Alex M. Wood, Graham Dunn, Shoshana Shiloh and Chris Todd

      Article first published online: 7 DEC 2011 | DOI: 10.1002/ajmg.a.34374

    10. You have free access to this content
      “Did you find that out in time?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely (pages 373–383)

      Chriselle L. Hickerton, MaryAnne Aitken, Jan Hodgson and Martin B. Delatycki

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34399

    11. Effectively training pediatric residents to deliver diagnoses of Down syndrome (pages 384–390)

      Carol A. Lunney, Harold L. Kleinert, James E. Ferguson II and Lynn Campbell

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34422

    12. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay (pages 391–399)

      Eric A. Muller, Swaroop Aradhya, Joan F. Atkin, Erin P. Carmany, Alison M. Elliott, Albert E. Chudley, Robin D. Clark, David B. Everman, Shannon Garner, Bryan D. Hall, Gail E. Herman, Emma Kivuva, Subhadra Ramanathan, David A. Stevenson, David W. Stockton and Louanne Hudgins

      Article first published online: 21 DEC 2011 | DOI: 10.1002/ajmg.a.34216

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p (pages 400–405)

      Nadia Boutry-Kryza, Audrey Labalme, Marianne Till, Caroline Schluth-Bolard, Jacques Langue, Catherine Turleau, Patrick Edery and Damien Sanlaville

      Article first published online: 7 DEC 2011 | DOI: 10.1002/ajmg.a.34222

    2. Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature (pages 406–411)

      Jo-Ann K. Brock, Sarah Dyack, Mark Ludman, Nadine Dumas, Michele Gaudet and Barbara Morash

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34272

    3. Myelodysplastic syndrome in a child with 15q24 deletion syndrome (pages 412–416)

      Yoko Narumi, Masaaki Shiohara, Keiko Wakui, Asahito Hama, Seiji Kojima, Kentaro Yoshikawa, Yoshiro Amano, Tomoki Kosho and Yoshimitsu Fukushima

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34395

    4. Report of a mother and daughter with the 12q14 microdeletion syndrome (pages 417–422)

      Audrey L. Bibb, Jill A. Rosenfeld and David D. Weaver

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34397

    5. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation (pages 423–428)

      Matthias Begemann, Sabrina Spengler, Ulrike Kordaß, Carmen Schröder and Thomas Eggermann

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34412

    6. A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy (pages 429–433)

      Moneef Shoukier, Julia Schröder, Barbara Zoll, Peter Burfeind, Clemens Freiberg, Lars Klinge, Thomas Kriebel, Michael Lingen, Alexander Mohr and Knut Brockmann

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34427

    7. Immunodeficiency in Vici syndrome: A heterogeneous phenotype (pages 434–439)

      Andrea Finocchi, Giulia Angelino, Nicoletta Cantarutti, Maurizio Corbari, Elsa Bevivino, Simona Cascioli, Francesco Randisi, Enrico Bertini and Carlo Dionisi-Vici

      Article first published online: 30 SEP 2011 | DOI: 10.1002/ajmg.a.34244

    8. Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy (pages 440–444)

      Edith Said, Doriette Soler and Caroline Sewry

      Article first published online: 30 SEP 2011 | DOI: 10.1002/ajmg.a.34273

    9. Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the “phacomatosis complex” (pages 445–449)

      Marco Castori, Oronzo Scarciolla, Silvia Morlino, Liborio Manente, Assunta Biscaglia, Alberto Fragasso and Paola Grammatico

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34403

    10. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy (pages 450–454)

      Agnieszka Jurecka, Zita Krumina, Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Anna Kłoska, Barbara Czartoryska and Anna Tylki-Szymańska

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34415

    11. Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I (pages 455–460)

      Rocio Moran, André B.P. Kuilenburg, John Duley, Sander B. Nabuurs, Aditia Retno-Fitri, John Christodoulou, Jeroen Roelofsen, Helger G. Yntema, Neil R. Friedman, Hans van Bokhoven and Arjan P.M. de Brouwer

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34428

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature (pages 461–464)

      Flavio Faletra, Adamo Pio D'Adamo, Maria Santa Rocca, Marco Carrozzi, Maria Dolores Perrone, Vanna Pecile and Paolo Gasparini

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34398

    2. Mosaic upd(7)mat in a patient with Silver–Russell syndrome (pages 465–468)

      Tomoko Fuke-Sato, Kazuki Yamazawa, Kazuhiko Nakabayashi, Keiko Matsubara, Kentaro Matsuoka, Tomonobu Hasegawa, Kazushige Dobashi and Tsutomu Ogata

      Article first published online: 13 JAN 2012 | DOI: 10.1002/ajmg.a.34404

    3. Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin (pages 469–472)

      T. Gardeitchik, N. de Leeuw, L. Nijtmans, P. Jira, T. Kozicz, M. Czako, I. van de Burgt and E. Morava

      Article first published online: 15 DEC 2011 | DOI: 10.1002/ajmg.a.34410

  9. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Communications
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Reviews
    1. The Boy in the Moon. A Father's Search for His Disabled Son. By Ian Brown. Random House, Canada, 2009. 296 p. (page 473)

      F. Clarke Fraser

      Article first published online: 6 JAN 2012 | DOI: 10.1002/ajmg.a.34429

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