American Journal of Medical Genetics Part A

Copyright © 2013 Wiley Periodicals Inc.

Cover image for Vol. 161 Issue 6

June 2013

Volume 161, Issue 6

Pages C1–C1, fm i–fm v, vii–x, 1207–1521

  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. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. American Journal of Medical Genetics Part A: Volume 161A, Number 6, June 2013 (page C1)

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.36070

  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. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Table of Contents, Volume 161A, Number 6, June 2013 (pages fm i–fm v)

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.36071

  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. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Guidelines support the return of incidental genomic findings : Recommendation suggests that labs should report children's mutations associated with certain adult-onset diseases (pages vii–viii)

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.36012

    2. Location of MECP2 mutation could affect Rett syndrome progression and severity : Wider role seen for key gene and protein (page ix)

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.36013

    3. In this issue (page x)

      Article first published online: 22 MAY 2013 | DOI: 10.1002/ajmg.a.36014

  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. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. A newly recognized autosomal recessive syndrome affecting neurologic function and vision (pages 1207–1213)

      Mustafa A. Salih, Andreas Tzschach, Darren T. Oystreck, Hamdy H. Hassan, Abdulmajeed AlDrees, Salah A. Elmalik, Heba Y. El Khashab, Thomas F. Wienker, Khaled K. Abu-Amero and Thomas M. Bosley

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35850

    2. Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis? (pages 1214–1220)

      Elisa Cinotti, Giulio Ferrero, Francesco Paparo, Marina Papadia, Francesca Faravelli, Franco Rongioletti, Carlo Traverso and Emilio Di Maria

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35908

  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. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature (pages 1221–1237)

      Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi-Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35933

    2. Elements of morphology: Standard terminology for the external genitalia (pages 1238–1263)

      Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

      Article first published online: 6 MAY 2013 | DOI: 10.1002/ajmg.a.35934

    3. Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia (pages 1264–1272)

      Daniela V. Luquetti, Babette S. Saltzman, Kathleen C. Sie, Craig B. Birgfeld, Brian G. Leroux, Kelly N. Evans, James M. Smartt Jr, David D. Tieu, Daniel J. Dudley and Carrie L. Heike

      Article first published online: 24 APR 2013 | DOI: 10.1002/ajmg.a.35963

    4. Utilizing high-fidelity crucial conversation simulation in genetic counseling training (pages 1273–1277)

      R. Lynn Holt, Nancy M. Tofil, Christina Hurst, Amber Q. Youngblood, Dawn Taylor Peterson, J. Lynn Zinkan, Marjorie Lee White, Jason L. Clemons and Nathaniel H. Robin

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35952

    5. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil (pages 1278–1283)

      Patrícia Petry, Janaina B. Polli, Vinícius F. Mattos, Rosana C.M. Rosa, Paulo R.G. Zen, Carla Graziadio, Giorgio A. Paskulin and Rafael F.M. Rosa

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35863

    6. Partial tetrasomy 14 associated with multiple malformations (pages 1284–1290)

      Johanna Winberg, Kristina Lagerstedt Robinson, Karin Naess, Nicole Lesko, Rolf Wibom, Agne Liedén, Britt-Marie Anderlid, Caroline Graff, Agneta Nordenskjöld, Ann Nordgren and Peter Gustavsson

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35887

    7. Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene (pages 1291–1299)

      Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistiene, Nina Gusina, Anna Kulpanovich, Adam Golda, Violetta Opoka-Winiarska, Ewa Piotrowska, Elena Voskoboeva and Anna Tylki-Szymańska

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35905

    8. Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype (pages 1300–1308)

      Beyhan Tüysüz, Saliha Yılmaz, Ece Gül, Luis Kolb, Kaya Bilguvar, Olcay Evliyaoğlu and Murat Günel

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35906

    9. Expanded Prader–Willi Syndrome Due to Chromosome 15q11.2–14 Deletion: Report and a Review of Literature (pages 1309–1318)

      Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35909

    10. Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults (pages 1319–1322)

      Guy D. Leschziner, John F. Golding and Rosalie E. Ferner

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35915

    11. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia (pages 1323–1328)

      Burkhard S. Kasper, Katrin Kurzbuch, Bernard S. Chang, Elisabeth Pauli, Hajo M. Hamer, Jürgen Winkler and Ute Hehr

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35917

    12. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect (pages 1329–1338)

      David J. Bunyan, Kevin R. Baker, John F. Harvey and N. Simon Thomas

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35919

    13. Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy (pages 1339–1344)

      Dianna Ng, Yosr Bouhlal, Philip C. Ursell and Joseph T.C. Shieh

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35925

    14. Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome (pages 1345–1353)

      Kelly N. Evans, Joseph S. Gruss, Paritosh C. Khanna, Michael L. Cunningham, Timothy C. Cox and Anne V. Hing

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35926

    15. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations (pages 1354–1369)

      José A. Caparrós-Martin, María Valencia, Veronica Pulido, Victor Martínez-Glez, Inmaculada Rueda-Arenas, Khalda Amr, Chantal Farra, Pablo Lapunzina, Victor L. Ruiz-Perez, Samia Temtamy and Mona Aglan

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35938

  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance (pages 1370–1375)

      Anne Philippe, Valérie Malan, Marie-Line Jacquemont, Nathalie Boddaert, Jean-Paul Bonnefont, Sylvie Odent, Arnold Munnich, Laurence Colleaux and Valérie Cormier-Daire

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35307

    2. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome (pages 1376–1380)

      Marije E.C. Meuwissen, Maarten H. Lequin, Karen Bindels-de Heus, Hennie T. Bruggenwirth, Maarten F.C.M. Knapen, Michiel Dalinghaus, René de Coo, Yolande van Bever, Beerend H.J. Winkelman and Grazia M.S. Mancini

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35858

    3. Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems (pages 1381–1385)

      Chiara Barone, Sebastiano Bianca, Daniela Luciano, Daniela Di Benedetto, Mirella Vinci and Marco Fichera

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35860

    4. Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome (pages 1386–1389)

      Claudia Algaze, Edward D. Esplin, Alexander Lowenthal, Louanne Hudgins, Theresa Ann Tacy and Elif Seda Selamet Tierney

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35864

    5. Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X-linked inheritance (pages 1390–1393)

      Bertrand Isidor, Tiphaine Lefebvre, Sébastien Barbarot, Julie Perrier, Sandra Mercier, Yann Péréon, Cédric Le Caignec and Albert David

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35871

    6. A de novo GLI3 mutation in a patient with acrocallosal syndrome (pages 1394–1400)

      Leonie Speksnijder, Titia E. Cohen-Overbeek, Maarten F.C.M. Knapen, Simone M. Lunshof, A. Jeannette M. Hoogeboom, Ans M. van den Ouwenland, Irenaneus F.M. de Coo, Maarten H. Lequin, Hanno J. Bolz, Carsten Bergmann, Leslie G. Biesecker, Patrick J. Willems and Marja W. Wessels

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35874

    7. A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1 (pages 1401–1404)

      Paola Cianci, Valentina Tono, Alessandra Sala, Laura Locatelli, Claudio Carta, Carmelo Rizzari, Andrea Biondi and Angelo Selicorni

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35875

    8. Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region (pages 1405–1408)

      Gregory Kellogg, John Sum and Robert Wallerstein

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35876

    9. 12q24.33 deletion: Report of a patient with intellectual disability and review of the literature (pages 1409–1413)

      Martin Kehrer, Sylke Singer, Ute Grasshoff, Karin Schäferhoff, Michael Bonin, Olaf Riess, Martin Schöning and Andreas Tzschach

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35877

    10. X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature (pages 1414–1420)

      Lidia Pezzani, Michela Brena, Michele Callea, Marina Colombi and Gianluca Tadini

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35882

    11. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2 (pages 1421–1424)

      Nabeel J.M. Salem, Maja Hempel, Katrin-Janine Heiliger, Stuart Hosie, Thomas Meitinger and Konrad Oexle

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35883

    12. Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome (pages 1425–1431)

      Rachel Vanneste, Erika Smith and Gail Graham

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35884

    13. Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia (pages 1432–1435)

      Philip F. Giampietro, Mei W. Baker, Monica J. Basehore, Julie R. Jones and Christine M. Seroogy

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35885

    14. Constitutional telomeric association (Y;7) in a patient with a female phenotype (pages 1436–1441)

      Claire Beneteau, Sabine Baron, Albert David, Frédérique Jossic, Damien Poulain, Sébastien Schmitt, Marc-David Leclair, Philippe Piloquet and Cédric Le Caignec

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35889

    15. Recurrent Compartment Syndrome in a Patient With Clinical Features of a Connective Tissue Disorder (pages 1442–1446)

      Brenda D. Barajas, Angela Sun, David L. Rimoin and Eyal Reinstein

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35894

    16. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature (pages 1447–1452)

      Else la Cour Sibbesen, Cathrine Jespersgaard, Daniela Alosi, Anne-Marie Bisgaard and Zeynep Tümer

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35901

    17. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly (pages 1453–1458)

      Sabrina Classen, Timm Goecke, Matthias Drechsler, Beate Betz, Natalie Nickel, Manfred Beier, Jörg Schaper, Michael Karenfort and Brigitte Royer-Pokora

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35904

    18. Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication (pages 1459–1464)

      Carla Marini, Antonella Cecconi, Elisa Contini, Marilena Pantaleo, Tiziana Metitieri, Silvia Guarducci, Sabrina Giglio, Renzo Guerrini and Maurizio Genuardi

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35907

    19. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf–Hirschhorn syndrome (pages 1465–1469)

      Nobuhiko Okamoto, Kazumi Ohmachi, Shino Shimada, Keiko Shimojima and Toshiyuki Yamamoto

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35910

    20. Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case (pages 1470–1474)

      Oscar F. Chacon-Camacho, Monica S. Lopez-Martinez, Johanna Vázquez, Angel Nava-Castañeda, Fernando Martin-Biasotti, Raul E. Piña-Aguilar, Marisol Iñiguez-Soto, Job Acosta-García and Juan C. Zenteno

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35916

    21. Severe Cenani–Lenz syndrome caused by loss of LRP4 function (pages 1475–1479)

      Ariana Kariminejad, Barbara Stollfuß, Yun Li, Nina Bögershausen, Karin Boss, Raoul C.M. Hennekam and Bernd Wollnik

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35920

    22. De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability (pages 1480–1486)

      Teresia Wangensteen, Lars Retterstøl, Olaug K. Rødningen, Jøran Hjelmesæth, Pål Aukrust and Bente Halvorsen

      Article first published online: 1 MAY 2013 | DOI: 10.1002/ajmg.a.35927

    23. A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability (pages 1487–1490)

      Jurate Kasnauskiene, Zivile Ciuladaite, Egle Preiksaitiene, Algirdas Utkus, Agnė Peciulyte and Vaidutis Kučinskas

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35911

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene (pages 1491–1494)

      Johanna Syvänen, Ilkka Helenius, Matti Hero, Outi Mäkitie and Jaakko Ignatius

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35872

    2. Birth Seasonality in Prader-Willi Syndrome Resulting From Chromosome 15 Microdeletion (pages 1495–1497)

      Tadayuki Ayabe, Keiko Matsubara, Tsutomu Ogata, Atsuko Ayabe, Nobuyuki Murakami, Toshiro Nagai and Maki Fukami

      Article first published online: 6 MAY 2013 | DOI: 10.1002/ajmg.a.35893

    3. Discordant chromosome placental mosaicism in a dichorionic twin pregnancy (pages 1498–1500)

      Marisa Silva, Paula Caetano, Vanessa Olival, Cristina Alves, Laurentino Simão, Cristina Ferreira, Bárbara Marques, José Furtado, Catarina Ventura, Sérgio Soares and Hildeberto Correia

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35902

    4. A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype (pages 1501–1504)

      Malgorzata Kowalczyk, Agnieszka Tomaszewska, Agnieszka Podbiol-Palenta, Barbara Remiszewska, Robert Jan H. Galjaard, Stanislaw Zajaczek and Malgorzata I. Srebniak

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35912

    5. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism (pages 1505–1507)

      Anne-Laure Mosca-Boidron, Mylène Valduga, Christel Thauvin-Robinet, Nathalie Lagarde, Nathalie Marle, Céline Henry, Jean-Michel Pinoit, Frédéric Huet, Mylène Béri-Deixheimer, Clémence Ragon, Lucie Gueneau, Muriel Payet, Patrick Callier, Francine Mugneret, Philippe Jonveaux and Laurence Faivre

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35878

    6. De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review (pages 1508–1512)

      Alexandra Jolley, Mark Corbett, Lesley McGregor, Wendy Waters, Susan Brown, Jillian Nicholl and Sui Yu

      Article first published online: 6 MAY 2013 | DOI: 10.1002/ajmg.a.35922

    7. Case of genochondromatosis type I in an 8-year-old boy (pages 1513–1516)

      Yoon Seok Lee, Jinmyoung Dan, Keun Jung Ryu, Byung Kook Kim, Soo-Hong Han and Hyeong Jong Kim

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35924

  8. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice (pages 1517–1519)

      J.M. Cobben, M. Engelen and A. Polstra

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35866

    2. Response to Cobben et al. “Array CGH on unstimulated blood does not detect all cases of Pallister-Killian Syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice” (pages 1520–1521)

      Jennelle C. Hodge and Salman Kirmani

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35865

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