American Journal of Medical Genetics Part A

Cover image for Vol. 155 Issue 8

August 2011

Volume 155, Issue 8

Pages C1–C1, fm i–fm vi, ix–xii, 1777–2044

  1. Cover Image

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

      Article first published online: 19 JUL 2011 | DOI: 10.1002/ajmg.a.34213

  4. Commentary

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
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      The relationship between the genetic counseling profession and the disability community: A commentary (pages 1777–1785)

      Anne C. Madeo, Barbara B. Biesecker, Campbell Brasington, Lori H. Erby and Kathryn F. Peters

      Article first published online: 12 MAY 2011 | DOI: 10.1002/ajmg.a.34054

  5. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. You have free access to this content
      Embracing the unique role of genetic counselors: Response to the commentary by Madeo et al. (pages 1791–1793)

      K.M. Dent, C. Harper, L. Kearney, C. Lieber and B. Finucane

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34111

  7. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. Megacystis, megacolon, and malrotation: A new syndromic association? (pages 1798–1802)

      A. Pini Prato, V. Rossi, M. Fiore, S. Avanzini, G. Mattioli, F. Sanfilippo, A. Michelazzi, S. Borghini, N. Disma, G. Montobbio, A. Barabino, P. Nozza, I. Ceccherini, S. Gimelli and V. Jasonni

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34119

  9. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. The FRAXopathies: Definition, overview, and update (pages 1803–1816)

      Filomena Pirozzi, Elisabetta Tabolacci and Giovanni Neri

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34113

  10. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. The ancient Egyptian dwarfs of the pyramids: The high official and the female worker (pages 1817–1824)

      Chahira Kozma, Azza Mohamed Sarry El Din, Rokia Abd El Shafy El Banna, Wafaa Abd El Samie Kandeel and Ralph Lachman

      Article first published online: 14 JUN 2011 | DOI: 10.1002/ajmg.a.34038

  11. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2) (pages 1825–1832)

      Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, David Granot, Shira Silverstein and Dvorah Abeliovich

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.33952

    2. Wolf–Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter (pages 1833–1847)

      Piotr S. Iwanowski, Barbara Panasiuk, Griet Van Buggenhout, Marina Murdolo, Marta Myśliwiec, Nicole M.C. Maas, Serena Lattante, Lech Korniszewski, Renata Posmyk, Jacek Pilch, Stanislaw Zajączek, Jean-Pierre Fryns, Marcella Zollino and Alina T. Midro

      Article first published online: 8 JUL 2011 | DOI: 10.1002/ajmg.a.34005

    3. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS) (pages 1848–1856)

      David L. Skidmore, David Chitayat, Tim Morgan, Alek Hinek, Bjoern Fischer, Aikaterini Dimopoulou, Gino Somers, William Halliday, Susan Blaser, Yenge Diambomba, Edmond G. Lemire, Uwe Kornak and Stephen P. Robertson

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34057

    4. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3 (pages 1857–1864)

      Alma Kuechler, Karen Buysse, Jill Clayton-Smith, Cédric Le Caignec, Albert David, Hartmut Engels, Jürgen Kohlhase, Francesca Mari, Geert Mortier, Alessandra Renieri and Dagmar Wieczorek

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34072

    5. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene (pages 1865–1876)

      Nathan Osbun, Jiang Li, Mary C. O'Driscoll, Zoe Strominger, Mari Wakahiro, Eric Rider, Polina Bukshpun, Elena Boland, Cailyn H. Spurrell, Wendy Schackwitz, Len A. Pennacchio, William B. Dobyns, Graeme C.M. Black and Elliott H. Sherr

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34081

    6. The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature (pages 1884–1896)

      Edina Torgyekes, Alan L. Shanske, Kwame Anyane-Yeboa, Odelia Nahum, Sara Pirzadeh, Einat Blumfield, Vaidehi Jobanputra, Dorothy Warburton and Brynn Levy

      Article first published online: 8 JUL 2011 | DOI: 10.1002/ajmg.a.34090

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      Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes (pages 1906–1916)

      Jill A. Rosenfeld, Joanne Milisa Drautz, Carol L. Clericuzio, Tom Cushing, Salmo Raskin, Judith Martin, Raymond C. Tervo, Jose A. Pitarque, Dorota M. Nowak, Justyna A. Karolak, Allen N. Lamb, Roger A. Schultz, Blake C. Ballif, Bassem A. Bejjani, Marzena Gajecka and Lisa G. Shaffer

      Article first published online: 8 JUL 2011 | DOI: 10.1002/ajmg.a.34100

    8. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum (pages 1917–1922)

      Denise Horn, Peter Krawitz, Anca Mannhardt, Georg Christoph Korenke and Peter Meinecke

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34102

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      Revisiting recombinant 8 syndrome (pages 1923–1929)

      Laura Pickler, Rebecca Wilson and Anne C-H Tsai

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34104

    10. Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy (pages 1930–1938)

      Els Geelen, Ine Van Hoyweghen, Pieter A. Doevendans, Carlo L.M. Marcelis and Klasien Horstman

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34107

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      Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation (pages 1939–1948)

      Ira T. Lott, Eric Doran, Vinh Q. Nguyen, Anne Tournay, Elizabeth Head and Daniel L. Gillen

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34114

    12. Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients (pages 1949–1958)

      Kenji Shimizu, Nobuhiko Okamoto, Noriko Miyake, Katsuaki Taira, Yumiko Sato, Keiko Matsuda, Noriko Akimaru, Hirofumi Ohashi, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto and Tomoki Kosho

      Article first published online: 8 JUL 2011 | DOI: 10.1002/ajmg.a.34115

    13. X-linked mental retardation with alacrima and achalasia—Triple A syndrome or a new syndrome? (pages 1959–1963)

      Daphna Marom, Adi Albin, Charles Schwartz, Adi Har-Zahav, Rachel Straussberg, Frank Bartel, Efrat Birk, Dov Inbar and Lina Basel-Vanagaite

      Article first published online: 8 JUL 2011 | DOI: 10.1002/ajmg.a.34121

  12. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality (pages 1964–1968)

      A. Nicoulaz, F. Rubi, L. Lieder, R. Wolf, B. Goeggel-Simonetti, M. Steinlin, R. Wiest, H.M. Bonel, A. Schaller, S. Gallati and B. Conrad

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.33210

    2. Achondroplasia with synostosis of multiple sutures (pages 1969–1971)

      George Georgoulis, George Alexiou and Neofytos Prodromou

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.33744

    3. Duplication of the STS region in males is a benign copy-number variant (pages 1972–1975)

      Aubry Furrow, Aaron Theisen, Lea Velsher, Erawati V. Bawle, Sujatha Sastry, Nancy J. Mendelsohn, Kristi Jarvis, Lisa G. Shaffer and David Chitayat

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.33985

    4. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family (pages 1976–1980)

      Masoud Garshasbi, Kimia Kahrizi, Masoumeh Hosseini, Leila Nouri Vahid, Masoumeh Falah, Sahel Hemmati, Hao Hu, Andreas Tzschach, Hans Hilger Ropers, Hossein Najmabadi and Andreas Walter Kuss

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34077

    5. Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism (pages 1987–1990)

      Laura Pilozzi-Edmonds, Thomas A. Maher, Raveen K. Basran, Aubrey Milunsky, Khalid Al-Thihli, Nancy E. Braverman and Ahmed Alfares

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34094

    6. Masticatory muscle defects in hemifacial microsomia: A new embryological concept (pages 1991–1995)

      Églantine Heude, Isabelle Rivals, Gérard Couly and Giovanni Levi

      Article first published online: 8 JUL 2011 | DOI: 10.1002/ajmg.a.34095

    7. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings (pages 1996–2002)

      Mariana M. Cajaiba, Selma Witchel, Suneeta Madan-Khetarpal, Jaqueline Hoover, Lori Hoffner, Trevor Macpherson and Urvashi Surti

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34106

    8. Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion (pages 2003–2007)

      Georg M. Stettner, Moneef Shoukier, Christoph Höger, Knut Brockmann and Bernd Auber

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34122

  13. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. Monozygotic twins with variable expression of Van der Woude Syndrome (pages 2008–2010)

      Rebekah Jobling, Raechel A. Ferrier, Ross McLeod, Aline Lourenco Petrin, Jeffrey C. Murray and Mary Ann Thomas

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34022

    2. A pigmentary skin defect is a new finding in Marshall–Smith syndrome (pages 2015–2017)

      Cristóbal Passalacqua, Camila Melo, Luz María Martín, Francisca Rojas, Patricia Sanz, Silvia Castillo Taucher and Ligia Aranibar

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34076

    3. Trisomy 13 (Patau syndrome) and craniosynostosis (pages 2018–2020)

      Rafael F.M. Rosa, Rosana C.M. Rosa, José A.M. Flores, Daniel T. Chazan, Cristine Dietrich, Mariana B. de Barth, Vanessa F. Carpes, André C. da Cunha, Carla Graziadio and Paulo R.G. Zen

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34086

    4. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame (pages 2021–2023)

      Maarten Vanwesemael, Isabelle Schrauwen, Ruben Ceuppens, Fatemeh Alasti, Ellen Jorssen, Effat Farrokhi, Morteza Hashemzadeh Chaleshtori and Guy Van Camp

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34096

    5. Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations (pages 2024–2027)

      Philip M. Boone, Russel J. Reiter, Daniel G. Glaze, Dun-Xian Tan, James R. Lupski and Lorraine Potocki

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34098

    6. Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis (pages 2028–2030)

      Karolina Kędzierska, Sebastian Kwiatkowski, Andrzej Torbé, Małgorzata Marchelek-Myśliwiec, Oliwia Marcinkiewicz, Katarzyna Bobrek-Lesiakowska, Edyta Gołembiewska, Ewa Kwiatkowska, Rafał Rzepka, Kazimierz Ciechanowski, Ryszard Czajka and René Santer

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34099

    7. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region (pages 2031–2034)

      A.L. Mosca, P. Callier, L. Faivre, N. Laurent, T. Rousseau, N. Marle, M. Payet, H. Guy, S. Couvreur, A. Masurel-Paulet, P. Sagot, C. Thauvin-Robinet and F. Mugneret

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.34105

  14. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. Book review (pages 2035–2036)

      Geoffrey H. Sperber and Steven M. Sperber

      Article first published online: 10 JUN 2011 | DOI: 10.1002/ajmg.a.34124

  15. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. Bias in patient series with VACTERL association (pages 2039–2041)

      Ekkehart Jenetzky, Charlotte H.W. Wijers, Carlo M. Marcelis, Nadine Zwink, Heiko Reutter and Iris A.L.M. van Rooij

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.33983

    2. Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al. (pages 2042–2043)

      Benjamin D. Solomon, Manu S. Raam, Daniel E. Pineda-Alvarez and Derek A.T. Cummings

      Article first published online: 7 JUL 2011 | DOI: 10.1002/ajmg.a.33982

  16. Errata

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Correspondence
    8. Invited Comments
    9. New Syndrome
    10. Research Reviews
    11. Genetic Drift
    12. Research Articles
    13. Clinical Reports
    14. Research Letters
    15. Book Reviews
    16. Correspondence
    17. Errata
    1. You have free access to this content
      Erratum to: Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-Mediated Copper Transport to the Developing Brain (page 2044)

      Anthony Donsante, Paul Johnson, Laura A. Jansen and Stephen G. Kaler

      Article first published online: 19 JUL 2011 | DOI: 10.1002/ajmg.a.34065

      This article corrects:

      Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain

      Vol. 152A, Issue 10, 2529–2534, Article first published online: 26 AUG 2010

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