American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

June 2012

Volume 158A, Issue 6

Pages C1–C1, fm i–fm vi, ix–xii, 1247–1521

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Book Reviews
    10. Correspondence
    11. Correspondences
    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. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Book Reviews
    10. Correspondence
    11. Correspondences
    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. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Book Reviews
    10. Correspondence
    11. Correspondences
    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: 17 MAY 2012 | DOI: 10.1002/ajmg.a.35461

  4. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Book Reviews
    10. Correspondence
    11. Correspondences
    1. Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics (pages 1252–1261)

      Christine M. Laine, Dror Koltin, Miki Susic, Talia L. Varley, Alan Daneman, Rahim Moineddin, William G. Cole, Outi Mäkitie and Etienne Sochett

      Article first published online: 17 APR 2012 | DOI: 10.1002/ajmg.a.35278

    2. Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree (pages 1262–1268)

      Christina Honeywell, Bob Argiropoulos, Stuart Douglas, Andrea L. Blumenthal, Judith Allanson, Jean McGowan-Jordan and M. Elizabeth McCready

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35286

    3. Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study (pages 1269–1278)

      Amy Østertun Geirdal, Sinan Dheyauldeen, Gregor Bachmann-Harildstad and Ketil Heimdal

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35309

    4. You have full text access to this OnlineOpen article
      Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects (pages 1279–1284)

      James R. Priest, Santhosh Girirajan, Tiffany H. Vu, Aaron Olson, Evan E. Eichler and Michael A. Portman

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35315

    5. Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome (pages 1285–1291)

      Jennifer N. Sanmann, Danielle L. Bishay, Lois J. Starr, Carla A. Bell, Diane L. Pickering, Jadd M. Stevens, Stephen G. Kahler, Ann Haskins Olney, G. Bradley Schaefer and Warren G. Sanger

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35347

    6. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints (pages 1292–1303)

      Shozo Honda, Shin Hayashi, Takaya Nakane, Issei Imoto, Kenji Kurosawa, Seiji Mizuno, Nobuhiko Okamoto, Mitsuhiro Kato, Hiroshi Yoshihashi, Takeo Kubota, Eiji Nakagawa, Yu-ichi Goto and Johji Inazawa

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35321

    7. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS) (pages 1304–1309)

      Alyssa A. Hamlin, Dina Sukharev, Luis Campos, Yi Mu, Flora Tassone, David Hessl, Danh V. Nguyen, Danuta Loesch and Randi J. Hagerman

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35323

    8. Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms (pages 1310–1319)

      Holly K. Tabor, Jacquie Stock, Tracy Brazg, Margaret J. McMillin, Karin M. Dent, Joon-Ho Yu, Jay Shendure and Michael J. Bamshad

      Article first published online: 24 APR 2012 | DOI: 10.1002/ajmg.a.35328

    9. Salivary gland pathology as a new finding in Treacher Collins syndrome (pages 1320–1325)

      Ingvild N. Østerhus, Nina Skogedal, Harriet Akre, Ulf L-H. Johnsen, Hilde Nordgarden and Pamela Åsten

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35331

    10. Aging in Prader–Willi syndrome: Twelve persons over the age of 50 years (pages 1326–1336)

      Margje Sinnema, Constance T.R.M. Schrander-Stumpel, Marian A. Maaskant, Harm Boer and Leopold M.G. Curfs

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35333

    11. Ambiguous genitalia: What prenatal genetic testing is practical? (pages 1337–1343)

      Margaret P. Adam, Patricia Y. Fechner, Linda A. Ramsdell, Angela Badaru, Richard E. Grady, Roberta A. Pagon, Elizabeth McCauley, Edith Y. Cheng, Melissa A. Parisi and Margarett Shnorhavorian

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35338

    12. Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene (pages 1344–1354)

      Roberto Mendoza-Londono, David Chitayat, Walter H.A. Kahr, Aleksander Hinek, Susan Blaser, Lucie Dupuis, Elaine Goh, Ramses Badilla-Porras, Andrew Howard, Laureane Mittaz, Andrea Superti-Furga, Sheila Unger, Gen Nishimura and Luisa Bonafe

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35339

    13. Women's knowledge, attitudes, and beliefs about Down syndrome: A qualitative research study (pages 1355–1362)

      Denise M. Levis, Shelly Harris, Nedra Whitehead, Rebecca Moultrie, Kara Duwe and Sonja A. Rasmussen

      Article first published online: 27 APR 2012 | DOI: 10.1002/ajmg.a.35340

    14. Candidate locus analysis for PHACE syndrome (pages 1363–1367)

      Sheri Mitchell, Dawn H. Siegel, Joseph T.C. Shieh, David A. Stevenson, J. Fredrik Grimmer, Tracey Lewis, Denise Metry, Ilona Frieden, Francine Blei, Hulya Kayserili, Beth A. Drolet and Pinar Bayrak-Toydemir

      Article first published online: 27 APR 2012 | DOI: 10.1002/ajmg.a.35341

    15. The face signature of fibrodysplasia ossificans progressiva (pages 1368–1380)

      Peter Hammond, Michael Suttie, Raoul C. Hennekam, Judith Allanson, Eileen M. Shore and Frederick S. Kaplan

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35346

    16. Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2 (pages 1381–1387)

      Aimé Lumaka, Christine Van Hole, Ingele Casteels, Els Ortibus, Veerle De Wolf, Joris R. Vermeesch, Tshilobo Lukusa and Koen Devriendt

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35353

    17. Brain abnormalities in patients with Beckwith–Wiedemann syndrome (pages 1388–1394)

      Kate Gardiner, David Chitayat, Sanaa Choufani, Cheryl Shuman, Susan Blaser, Deborah Terespolsky, Sandra Farrell, Rosemary Reiss, Shoshana Wodak, Shuye Pu, Peter N. Ray, Berivan Baskin and Rosanna Weksberg

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35358

    18. Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region (pages 1395–1399)

      Marina Michelson, Anat Ben-Sasson, Chana Vinkler, Esther Leshinsky-Silver, Ifat Netzer, Ayala Frumkin, Sara Kivity, Tally Lerman-Sagie and Dorit Lev

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35361

  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Book Reviews
    10. Correspondence
    11. Correspondences
    1. Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature (pages 1400–1405)

      Canan Aygun, Fatma Cakmak Celik, Mehmet Selim Nural, Emine Azak, Şukru Kucukoduk, Gonul Ogur and Lutfi Incesu

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35306

    2. Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines) (pages 1406–1410)

      Juliette Piard, Alain Verloes, Hélène Cavé, Michel Peuchmaur, Selim Bennaceur and Bruno Leheup

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35329

    3. A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1 (pages 1414–1421)

      Jill A. Fahrner, Aisha Frazier, Suha Bachir, Michael F. Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M. Murphy and Meral Gunay-Aygun

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35363

    4. A co-occurrence of osteogenesis imperfecta type VI and cystinosis (pages 1422–1426)

      Tracy Tucker, Tanya Nelson, Sandra Sirrs, Peter Roughley, Francis H. Glorieux, Pierre Moffatt, Kamilla Schlade-Bartusiak, Lindsay Brown and Frank Rauch

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35319

    5. 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly (pages 1427–1433)

      Maria Piccione, Gregorio Serra, Valeria Consiglio, Antonella Di Fiore, Simona Cavani, Marina Grasso, Michela Malacarne, Mauro Pierluigi, Chiara Viaggi and Giovanni Corsello

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35334

    6. Wiedemann–Rautenstrauch syndrome: Report of a variant case (pages 1434–1436)

      Aslihan Kiraz, Samim Ozen, Filiz Tubas, Yusuf Usta, Ozgur Aldemir and Yasemin Alanay

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35336

    7. Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene (pages 1437–1441)

      Kucinskas Laimutis, Craig Jackson, Xinjie Xu, Berta Warman, Rudaitis Sarunas, Irena Andriuskeviciute, Pundziene Birute, Lisa A. Schimmenti and Gordana Raca

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35342

    8. Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features (pages 1442–1446)

      Elzbieta Petriczko, Agnieszka Biczysko-Mokosa, Joanna Bogdanowicz, Maria Constantinou, Elzbieta Zdziennicka, Anita Horodnicka-Jozwa, Ewa Barg, Sylwia Gawlik-Zawislak, Anna Sulek-Piatkowska, Grazyna Dawid, Mieczysław Walczak, Karolina Pesz, Andrzej Kedzia and Stanislaw Zajaczek

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35345

    9. Long-term survival with diaphanospondylodysostosis (DSD): Survival to 5 years and further phenotypic characteristics (pages 1447–1451)

      Brian Scottoline, Scott Rosenthal, Rami Keisari, Rashmi Kirpekar, Cathy Angell and Robert Wallerstein

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35352

    10. Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism (pages 1452–1454)

      Walla Al-Hertani, Jean McGowan-Jordan and Judith E. Allanson

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35354

    11. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I (pages 1455–1461)

      Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Mahmoud Issa, Ahmed Magdy, Ahmed El-Kotoury and Khalda Amr

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35356

    12. Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature (pages 1462–1466)

      Sung Yoon Cho, Chang-Seok Ki, Ja-Hyun Jang, Young Bae Sohn, Sung Won Park, Se Hwa Kim, Su Jin Kim and Dong-Kyu Jin

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35357

    13. Confirmation of the Zechi-Ceide syndrome (pages 1467–1471)

      Siddaramappa J. Patil, Venkatraman Bhat, Ashwin Dalal and J. Samuel Santosh

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35360

    14. Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX (pages 1472–1476)

      Renske Oegema, Anneke Maat-Kievit, Maarten H. Lequin, Rachel Schot, Veerle M.H. Nanninga- van den Neste, Marianne E. Doornbos, Marie C.Y. de Wit, Dicky J. Halley and Grazia M.S. Mancini

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35365

    15. Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader–Willi syndrome (pages 1477–1480)

      Yuji Oto, Kazuo Obata, Keiko Matsubara, Yuki Kozu, Takayoshi Tsuchiya, Satoru Sakazume, Atsunori Yoshino, Nobuyuki Murakami, Tsutomu Ogata and Toshiro Nagai

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35378

    16. Germline mosaicism in Cornelia de Lange syndrome (pages 1481–1485)

      Thomas P. Slavin, Noam Lazebnik, Dinah M. Clark, Jaime Vengoechea, Leslie Cohen, Maninder Kaur, Laura Konczal, Carol A. Crowe, Jane E. Corteville, Malgorzata J. Nowaczyk, Janice L. Byrne, Laird G. Jackson and Ian D. Krantz

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35381

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Book Reviews
    10. Correspondence
    11. Correspondences
    1. A girl with two syndromes: Turner syndrome and Costello syndrome. A case history (pages 1486–1488)

      Agata Skórka, Elżbieta Ciara, Dorota Gieruszczak-Białek, Magdalena Pelc, Monika Kugaudo, Krystyna Chrzanowska and Małgorzata Krajewska-Walasek

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35320

    2. FG syndrome: The FGS2 locus revisited (pages 1489–1492)

      Olivier Perche, Béatrice Laudier, Arnaud Menuet, Sylvie Odent, Frederic Laumonnier and Sylvain Briault

      Article first published online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35322

    3. De novo duplication and deletions at 7q in a three-generation family (pages 1493–1497)

      Bertrand Isidor, Olaya Villa, Olivier Pichon, Annaig Briand, Damien Poulain, Pierre Boisseau, Luis Alberto Pérez-Jurado and Cédric Le Caignec

      Article first published online: 10 MAY 2012 | DOI: 10.1002/ajmg.a.35332

    4. Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion (pages 1498–1502)

      Vivian Alejandra Neira, Carlos Córdova-Fletes, Yohann Grondin, Azubel Ramirez-Velazco, Luis E. Figuera, Rocío Ortíz-López and Michela Barbaro

      Article first published online: 11 MAY 2012 | DOI: 10.1002/ajmg.a.35344

    5. The idic(15) syndrome: Expanding the phenotype (pages 1505–1508)

      Elizabeth Caruana Galizia, Rodger Palmer, Jonathan J. Waters, Matthias J. Koepp, Raoul C.M. Hennekam and Sanjay M. Sisodiya

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35366

    6. Discordant monozygotic twins for macrocephaly-capillary malformation (pages 1509–1511)

      Damien Lederer, Katrina Rack, Sébastien Boulanger, Oreste Battisti and Christine Verellen-Dumoulin

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35382

    7. Deletion of filamin A in two female patients with periventricular nodular heterotopia (pages 1512–1516)

      Jodi Warman Chardon, Cyril Mignot, Swaroop Aradhya, Boris Keren, Alexandra Afenjar, Anna Kaminska, Cherif Beldjord, Delphine Héron and Kym M. Boycott

      Article first published online: 20 APR 2012 | DOI: 10.1002/ajmg.a.35409

  8. Book Reviews

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Book Reviews
    10. Correspondence
    11. Correspondences
    1. Mutations of SMAD4 account for both LAPS and Myhre syndromes (pages 1520–1521)

      Noralane M. Lindor, Shanaka R. Gunawardena and Stephen N. Thibodeau

      Article first published online: 14 MAY 2012 | DOI: 10.1002/ajmg.a.35374

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