American Journal of Medical Genetics Part A

Cover image for Vol. 149A Issue 12

December 2009

Volume 149A, Issue 12

Pages C1–C1, fm i–fm x, 2629–2901

  1. Cover Image

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. You have free access to this content
    2. You have free access to this content
      Familial occurrence of an association of multiple intestinal atresia and choanal atresia: A new syndrome? (pages 2661–2665)

      Alessandra Ferrarini, Maria-Chiara Osterheld, Yvan Vial, Pierre A. de Viragh, Jacques Cotting, Danielle Martinet, Jacques S. Beckmann and Florence Fellmann

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33132

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome (pages 2666–2672)

      Marni E. Axelrad, David D. Schwartz, Julie E. Fehlis, Elizabeth Hopkins, Deborah L. Stabley, Katia Sol-Church and Karen W. Gripp

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33126

    2. Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate (pages 2673–2679)

      Katherine Neiswanger, Kevin W. Chirigos, Cherise M. Klotz, Margaret E. Cooper, Kathleen M. Bardi, Carla A. Brandon, Seth M. Weinberg, Alexandre R. Vieira, Rick A. Martin, Andrew E. Czeizel, Eduardo E. Castilla, Fernando A. Poletta and Mary L. Marazita

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33089

    3. Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin (pages 2680–2694)

      Elisabeth Mangold, Heiko Reutter, Stefanie Birnbaum, Maja Walier, Manuel Mattheisen, Henning Henschke, Carola Lauster, Gül Schmidt, Franziska Schiefke, Rudolf H. Reich, Martin Scheer, Alexander Hemprich, Markus Martini, Bert Braumann, Michael Krimmel, Charlotte Opitz, Jan-Hendrik Lenz, Franz-Josef Kramer, Thomas F. Wienker, Markus M. Nöthen and Amalia Diaz Lacava

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33136

    4. Absence of Lamin A/C gene mutations in four Wiedemann–Rautenstrauch syndrome patients (pages 2695–2699)

      Luis C. Morales, Gonzalo Arboleda, Yeldy Rodríguez, Diego A. Forero, Nelson Ramírez, Juan J. Yunis and Humberto Arboleda

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33090

    5. Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome (pages 2700–2705)

      Vered Shkalim, Hagit N. Baris, Gavriel Gal, Ruth Gleiss, Shlomo Calderon, Marja Wessels, Anneke Maat-Kievit, Björn Menten, Elfride De Baere, Raoul C.M. Hennekam, Anja Schirmacher, Sherri Bale, Mordechai Shohat and Patrick J. Willems

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33095

    6. Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia (pages 2706–2715)

      Adele Schneider, Tanya Bardakjian, Linda M. Reis, Rebecca C. Tyler and Elena V. Semina

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33098

    7. Recurrence risks for trisomies 13, 18, and 21 (pages 2716–2722)

      Elizabeth De Souza, Jane Halliday, Annabelle Chan, Carol Bower and Joan K. Morris

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33099

    8. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome (pages 2723–2730)

      Svetlana A. Yatsenko, Maria del Valle Torrado, Priscilla H. Fernandes, Joanna Wiszniewska, Marta Gallego, Jorge Herrera and Carlos A. Bacino

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33112

    9. “It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non-pregnant women (pages 2731–2738)

      Alison D. Archibald, Alice M. Jaques, Samantha Wake, Veronica R. Collins, Jonathan Cohen and Sylvia A. Metcalfe

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33122

    10. Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot (pages 2745–2752)

      Audrey R. Ester, Katelyn S. Weymouth, Amber Burt, Carol A. Wise, Allison Scott, Christina A. Gurnett, Matthew B. Dobbs, Susan H. Blanton and Jacqueline T. Hecht

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33130

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Nonsyndromic alar clefts: Report of five Brazilian patients (pages 2765–2767)

      Antonio Richieri-Costa and Maria Leine Guion-Almeida

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.32845

    2. Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype (pages 2768–2774)

      Pi-Lin Sung, Sheng-Ping Chang, Kuo-Chang Wen, Chia-Ming Chang, Ming-Jie Yang, Lin-Chao Chen, Kuan-Chong Chao, Chi-Ying F. Huang, Yueh-Chun Li and Chyi-Chyang Lin

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.32878

    3. Rare rearrangements: A “jumping satellite” in one family and autosomal location of the SRY gene in an XX male (pages 2775–2781)

      Shu-Chin Chien, Yueh-Chun Li, Ming Ho, Pei-Ching Hsu, Ru-Hsiou Teng, Wei-De Lin, Fuu-Jen Tsai and Chyi-Chyang Lin

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.32958

    4. Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy (pages 2782–2787)

      Yasemin Soysal, Sevim Balcı, Kuyaş Hekimler, Thomas Liehr, Elisabeth Ewers, Jacqueline Schoumans, The-Hung Bui, Fadime Mutlu İçduygu, Nadezda Kosyakova and Necat İmirzalıoğlu

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33069

    5. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature (pages 2788–2794)

      Michael R. Rossi, Miriam S. DiMaio, Bixia Xiang, Kangmo Lu, Hande Kaymakcalan, Margretta Seashore, Maurice J. Mahoney and Peining Li

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33088

    6. Pre- and postnatal findings in a boy with duplication of the bladder and intestine: Report and review (pages 2795–2802)

      Majid Alfadhel, Denise Pugash, Ashley James Robinson, James J. Murphy, Christof Senger, Kourosh Afshar and Linlea Armstrong

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33091

    7. The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects (pages 2803–2808)

      Wuyan Chen, Mimi S. Kim, Sujata Shanbhag, Andrew Arai, Carol VanRyzin, Nazli B. McDonnell and Deborah P. Merke

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33092

    8. Ulnar mammary syndrome and TBX3: Expanding the phenotype (pages 2809–2812)

      Helen Linden, Rosy Williams, Janet King, Edward Blair and Usha Kini

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33096

    9. Genotype–phenotype correlation in four 15q24 deleted patients identified by array-CGH (pages 2813–2819)

      Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco-Fenzy, Emilie Landais, Bruno Delobel, Sylvie Odent, Sylvie Manouvrier-Hanu and Muriel Holder-Espinasse

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33097

    10. Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation (pages 2820–2823)

      Irene Mademont-Soler, Carme Morales, Irene Madrigal, Ester Margarit, Jordi Bruguera, Núria Clusellas, José M. Martínez, Antoni Borrell, Aurora Sánchez and Anna Soler

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33105

    11. Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome (pages 2824–2827)

      Vance T. Lehman, Marc C. Patterson, Dusica Babovic-Vuksanovic and Charlotte Rydberg

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33108

    12. Amelia, cleft lip, and holoprosencephaly: A distinct entity (pages 2828–2831)

      Ariana Kariminejad, Payman Goodarzi, Alaleh Asghari-Roodsari and Mohamad Hasan Kariminejad

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.32933

    13. Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia (pages 2832–2837)

      Knut Brockmann, Heiko Backes, Bernd Auber, Thomas Kriebel, Franziska Stellmer and Barbara Zoll

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33111

    14. Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome? (pages 2838–2842)

      Rob Hastings, David Harding, Alan Donaldson, Rachel Liebling, Alison Hayes, Alison Kraus, Shelagh Joss, Shuba Narayanaswamy, Peter Turnpenny and Sarah Smithson

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33124

    15. Pseudoaminopterin syndrome: Clinical report with new characteristics (pages 2843–2848)

      N. Sobreira, M. Cernach, D. Batista, D. Brunoni and A. Perez

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33125

    16. Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers (pages 2849–2854)

      Dagmar Wieczorek, Oliver Bartsch, Stanislav Lechno, Jürgen Kohlhase, Dorien J.M. Peters, Hans Dauwerse, Gabriele Gillessen-Kaesbach, Raoul C.M. Hennekam and Eberhard Passarge

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33129

    17. You have free access to this content
      Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor (pages 2855–2859)

      Lucie Lafay-Cousin, Eric Payne, Douglas Strother, Judy Chernos, Michael Chan and Francois P. Bernier

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33119

    18. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2 (pages 2860–2864)

      M. Cristina Digilio, Donna M. McDonald-McGinn, Carrie Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino and Elaine H. Zackai

      Article first published online: 3 NOV 2009 | DOI: 10.1002/ajmg.a.33034

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Vertebral defects as an unusual mode of presentation of 22q11.2 deletion (pages 2865–2866)

      L. Faivre, A. Masurel-Paulet, P. Callier, N. Mejean, S. Gay, M. Grimaldi, F. Mugneret, F. Huet and C. Thauvin-Robinet

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.32974

    2. Expanding the phenotype of duplication of the Rubinstein–Taybi region on 16p13.3 (pages 2867–2870)

      Bruno Dallapiccola, Laura Bernardini, Antonio Novelli and Rita Mingarelli

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.32662

    3. Father-to-son transmission of an X-linked gene: A case of paternal sex chromosome heterodisomy (pages 2871–2873)

      R.A. Ferrier, R.B. Lowry, E.G. Lemire, G.P. Stoeber, J. Howard and J.S. Parboosingh

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.32994

    4. Absence of SIX3 mutations in patients with congenital hypopituitarism (pages 2874–2876)

      Carles Gaston-Massuet, Daniel Kelberman, Mehul Dattani and Juan Pedro Martinez-Barbera

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33103

    5. Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother (pages 2877–2881)

      Doriana Misceo, Karen Helene Ørstavik, Helle Lybæk, Inger Sandvig, Eli Ormerod, Gunnar Houge and Eirik Frengen

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33106

    6. Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia (pages 2882–2885)

      Yuka Wada, Gen Nishimura, Toshiro Nagai, Hideaki Sawai, Mayumi Yoshikata, Shinichirou Miyagawa, Takushi Hanita, Seiji Sato, Tomonobu Hasegawa, Shumpei Ishikawa and Tsutomu Ogata

      Article first published online: 16 NOV 2009 | DOI: 10.1002/ajmg.a.33107

    7. Richieri-Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs (pages 2886–2888)

      Carla Graziadio, Rafael F.M. Rosa, Paulo R.G. Zen, José A.M. Flores and Giorgio A. Paskulin

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33109

    8. Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication (pages 2892–2897)

      Romain Guilherme, Fabien Guimiot, Anne-Claude Tabet, Suonavy Khung-Savatovsky, Evelyne Gauthier, Marc Nouchy, Brigitte Benzacken, Alain Verloes, Jean-François Oury, Anne-Lise Delezoide and Azzedine Aboura

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33135

  9. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Response to Klinger and Merlob re: Case description with review of the literature. Am J Med Genet Part A 149A:1597–1602, 2009 (page 2899)

      A. Baban, M. Torre, S. Bianca, A. Buluggiu, M.I. Rossello, M.G. Calevo, M. Valle, R. Ravazzolo, V. Jasonni and M. Lerone

      Article first published online: 24 NOV 2009 | DOI: 10.1002/ajmg.a.33120

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