American Journal of Medical Genetics Part A

Cover image for Vol. 164 Issue 2

February 2014

Volume 164, Issue 2

Pages C1–C1, fm i–fm vi, ix–xii, 287–561

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
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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. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. 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. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. 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 xii)

      Article first published online: 21 JAN 2014 | DOI: 10.1002/ajmg.a.36420

  4. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    1. A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome? (pages 287–290)

      Jessica Roberts, Wilfredo Torres-Martinez, Emily Farrow, Abby Stevens, Paula Delk, Kenneth E. White and David D. Weaver

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36273

  5. Rapid Communication

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    1. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia (pages 291–304)

      Yasemin Alanay, Bekir Ergüner, Eda Utine, Orçun Haçarız, Pelin Ozlem Simsek Kiper, Ekim Zihni Taşkıran, Ferda Perçin, Elif Uz, Mahmut Şamil Sağıroğlu, Bayram Yuksel, Koray Boduroglu and Nurten Ayse Akarsu

      Article first published online: 5 NOV 2013 | DOI: 10.1002/ajmg.a.36248

  6. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    1. You have free access to this content
      Lucky (pages 305–307)

      Katarzyna Jaronczyk

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36286

  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    1. You have free access to this content
    2. Surgical intervention for esophageal atresia in patients with trisomy 18 (pages 324–330)

      Eriko Nishi, Shigeru Takamizawa, Kenji Iio, Yasumasa Yamada, Katsumi Yoshizawa, Tomoko Hatata, Takehiko Hiroma, Seiji Mizuno, Hiroshi Kawame, Yoshimitsu Fukushima, Tomohiko Nakamura and Tomoki Kosho

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36294

    3. Orthopedics management of acromicric dysplasia: Follow up of nine patients (pages 331–337)

      Céline Klein, Carine Le Goff, Vicken Topouchian, Sylvie Odent, Philippe Violas, Christophe Glorion and Valérie Cormier-Daire

      Article first published online: 11 DEC 2013 | DOI: 10.1002/ajmg.a.36139

    4. Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome (pages 338–345)

      María Luisa Martínez-Fernández, Eva Bermejo-Sánchez, Belén Fernández, Alexandra MacDonald, Joaquín Fernández-Toral and María Luisa Martínez-Frías

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36224

    5. Potocki–shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype (pages 346–352)

      Alessandra Ferrarini, Muriel Gaillard, Frederic Guerry, Gianpaolo Ramelli, Fodstad Heidi, Caroline Verley Keddache, Ilse Wieland, Jacques S. Beckmann, Sébastien Jaquemont and Danielle Martinet

      Article first published online: 13 DEC 2013 | DOI: 10.1002/ajmg.a.36140

    6. WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations (pages 353–359)

      Pakeeza Shaiq Arzoo, Joakim Klar, Birgitta Bergendal, Johanna Norderyd and Niklas Dahl

      Article first published online: 25 NOV 2013 | DOI: 10.1002/ajmg.a.36243

    7. Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females (pages 364–369)

      Jess F. Peterson, Lina Ghaloul-Gonzalez, Suneeta Madan-Khetarpal, Jessica Hartman, Urvashi Surti, Aleksandar Rajkovic and Svetlana A. Yatsenko

      Article first published online: 25 NOV 2013 | DOI: 10.1002/ajmg.a.36238

    8. Somatic and germ-line mosaicism of deletion 15q11.2–q13 in a mother of dyzigotic twins with Angelman syndrome (pages 370–376)

      Javier Sánchez, Raquel Fernández, Marcos Madruga, José Bernabeu-Wittel, Guillermo Antiñolo and Salud Borrego

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36281

    9. Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability (pages 377–385)

      Emma Palmer, Helen Speirs, Peter J Taylor, Glenda Mullan, Gill Turner, Stewart Einfeld, Bruce Tonge and David Mowat

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36279

    10. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations (pages 386–391)

      Anthony M. Vandersteen, Allan M. Lund, David J.P. Ferguson, Philip Sawle, Rebecca C. Pollitt, Susan E. Holder, Emma Wakeling, Neil Moat and F. Michael Pope

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36285

    11. Multiple café au lait spots in familial patients with MAP2K2 mutation (pages 392–396)

      Toshiki Takenouchi, Atsushi Shimizu, Chiharu Torii, Rika Kosaki, Takao Takahashi, Hideyuki Saya and Kenjiro Kosaki

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36288

    12. Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects (pages 397–406)

      Kazutoyo Osoegawa, David M. Iovannisci, Bin Lin, Christina Parodi, Kathleen Schultz, Gary M. Shaw and Edward J. Lammer

      Article first published online: 11 OCT 2013 | DOI: 10.1002/ajmg.a.36291

    13. Airway malacia in children with achondroplasia (pages 407–414)

      Kimberly E. Dessoffy, Peggy Modaff and Richard M. Pauli

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36303

    14. Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome (pages 415–420)

      Shino Shimada, Yoshihiro Maegaki, Makiko Osawa and Toshiyuki Yamamoto

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36304

    15. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader–Willi syndrome phenotype (pages 425–431)

      Britt-Marie Anderlid, Johanna Lundin, Helena Malmgren, Mikael Lehtihet and Ann Nordgren

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36307

    16. You have free access to this content
      A description of spina bifida cases and co-occurring malformations, 1976–2011 (pages 432–440)

      Samantha E. Parker, Mahsa M. Yazdy, Allen A. Mitchell, Laurie A. Demmer and Martha M. Werler

      Article first published online: 19 DEC 2013 | DOI: 10.1002/ajmg.a.36324

    17. You have free access to this content
    18. You have free access to this content
      Genetic services and attitudes in primary care pediatrics (pages 449–455)

      Michael L. Rinke, Natalie Mikat-Stevens, Robert Saul, Amy Driscoll, Jill Healy and Beth A. Tarini

      Article first published online: 19 NOV 2013 | DOI: 10.1002/ajmg.a.36339

  8. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    1. 1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay (pages 456–460)

      Toshiki Takenouchi, Noriko Hashida, Chiharu Torii, Rika Kosaki, Takao Takahashi and Kenjiro Kosaki

      Article first published online: 25 NOV 2013 | DOI: 10.1002/ajmg.a.36240

    2. Hand and fibrillin-1 deposition abnormalities in Loeys–Dietz syndrome—expanding the clinical spectrum (pages 461–466)

      Brian H.Y. Chung, Tim Bradley, Lars Grosse-Wortmann, Susan Blaser, Peter Dirks, Aleksander Hinek and David Chitayat

      Article first published online: 5 NOV 2013 | DOI: 10.1002/ajmg.a.36246

    3. Hypoglycemia in Kabuki syndrome (pages 467–471)

      Anbezhil Subbarayan and Khalid Hussain

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36256

    4. Hepatoblastoma in a 15-month-old female with trisomy 13 (pages 472–475)

      Rachana Shah, Hung Chi Tran, Linda Randolph, Leo Mascarenhas and Rajkumar Venkatramani

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36271

    5. A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay (pages 476–479)

      Shigeru Suzuki, Atsushi Nakao, Ashoor R. Sarhat, Akiko Furuya, Kumihiro Matsuo, Yusuke Tanahashi, Hiroki Kajino and Hiroshi Azuma

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36275

    6. Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone (pages 480–483)

      Ghada M.H. Abdel-Salam, Sawsan Abdel-Hadi, Manal M. Thomas, Ola M. Eid, Manal M. Ali and Hanan H. Afifi

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36276

    7. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2 (pages 484–489)

      Ayca D. Aslanger, Umut Altunoglu, Emre Aslanger, Bilge N. Satkın, Zehra Oya Uyguner and Hülya Kayserili

      Article first published online: 29 OCT 2013 | DOI: 10.1002/ajmg.a.36277

    8. Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: An array CGH analysis and review (pages 490–494)

      Ibrahim Akalin, Senol Bozdag, Malte Spielmann, Sarenur Yilmaz Basaran, Indrajit Nanda and Eva Klopocki

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36278

    9. Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1 (pages 495–499)

      V. Capra, M. Severino, A. Rossi, P. Nozza, C. Doneda, K. Perri, M. Pavanello, P. Fiorio, G. Gimelli, E. Tassano and E. Di Battista

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36283

    10. Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome (pages 500–504)

      Pilar L. Magoulas, Pengfei Liu, Violet Gelowani, Claudia Soler-Alfonso, Emma C. Kivuva, James R. Lupski and Lorraine Potocki

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36287

    11. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia (pages 505–510)

      Takayoshi Tsuchiya, Minoru Shibata, Hironao Numabe, Tomoko Jinno, Kazuhiko Nakabayashi, Gen Nishimura, Toshiro Nagai, Tsutomu Ogata and Maki Fukami

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36284

    12. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations (pages 522–527)

      Lucie Gueneau, Laurence Duplomb, Pierre Sarda, Christian Hamel, Bernard Aral, Salima El Chehadeh, Nadège Gigot, Judith St-Onge, Patrick Callier, Julien Thevenon, Frédéric Huet, Virginie Carmignac, Nathalie Droin, Laurence Faivre and Christel Thauvin-Robinet

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36300

    13. Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain (pages 528–534)

      Marco Castori, Silvia Morlino, Marco Ritelli, Francesco Brancati, Carmelilia De Bernardo, Marina Colombi and Paola Grammatico

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36301

    14. Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications (pages 535–541)

      Jacqueline R. Batanian, Stephen R. Braddock, Katherine Christensen and Alan P. Knutsen

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36305

    15. Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain (pages 542–547)

      Raquel M. Fernández, Raquel Núñez-Ramos, Mª Valle Enguix-Riego, Francisco José Román-Rodríguez, Enrique Galán-Gómez, Emilio Blesa-Sánchez, Guillermo Antiñolo, Ramón Núñez-Núñez and Salud Borrego

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36302

  9. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    1. A patient with a duplication of chromosome 3p (p24.1p26.2): A comparison with other partial 3p trisomies (pages 548–550)

      Daniel Natera-de Benito, M Asunción García-Pérez, Miguel Ángel Martínez-Granero and Luis Izquierdo-López

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36164

    2. Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum (pages 551–553)

      Pollyanna Almeida Costa dos Santos, Silviene Fabiana de Oliveira, Erika L. Freitas, Heloisa Pires Neto Safatle, Carla Rosenberg, Iris Ferrari and Juliana Forte Mazzeu

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36231

    3. SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot (pages 554–556)

      Rena J. Vanzo, Megan M. Martin, Mallory R. Sdano, Kathie Teta, Vimla Aggarwal and Sarah T. South

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36242

    4. After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population (pages 557–558)

      Cindy Benson, Lindsey Stobie, Natasha Shur, Zhenglong Yuan, Manuel R Teixeira and Maureen Chung

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36254

    5. Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome (pages 559–560)

      Rosilene da S. Betat, Jorge A. B. Telles, Amanda M. Gobatto, Anna M. de H. Bicca, Camila P. Arcolini, Thaís K. V. Dal Pai, Adyr E. V. Faria, Paulo R. G. Zen and Rafael F. M. Rosa

      Article first published online: 16 OCT 2013 | DOI: 10.1002/ajmg.a.36289

  10. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Rapid Communication
    7. Genetic Drift
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    1. The childless man (page 561)

      Angela E. Scheuerle, Jason L. Picconi, Julie Neidich, Susan Panny, Beth A. Plecher, Linda M. Randolph, Pamela Trapane and Tracy L. Trotter

      Article first published online: 5 DEC 2013 | DOI: 10.1002/ajmg.a.36290

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