• Issue

    American Journal of Medical Genetics Part A: Volume 155, Issue 11

    C1-fm vi, ix-xii, 2609-2903
    November 2011
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Cover Image

Free Access

American Journal of Medical Genetics Part A: Volume 155, Number 11, November 2011

  • Page: C1
  • First Published: 21 October 2011

Table of Contents

Free Access

Table of Contents, Volume 155, Number 11, November 2011

  • Pages: fm i-fm vi
  • First Published: 21 October 2011

the AJMG SEQUENCE

Free Access

NIH to include children's genomic data in electronic medical records

  • Pages: ix-x
  • First Published: 21 October 2011
Free Access

Legal battle over BRCA1 and BRCA2 patents continues

  • Pages: x-xi
  • First Published: 21 October 2011
Free Access

In this issue

  • Page: xii
  • First Published: 21 October 2011

Research Articles

Full Access

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)†

Lisenka E.L.M. Vissers,  Virginia Fano,  Diego Martinelli,  Belinda Campos-Xavier,  Domenico Barbuti,  Tae-Joon Cho,  Ahmet Dursun,  Ok Hwa Kim,  Sun Hee Lee,  Giuseppina Timpani,  Gen Nishimura,  Sheila Unger,  Jörn Oliver Sass,  Joris A. Veltman,  Han G. Brunner,  Luisa Bonafé,  Carlo Dionisi-Vici,  Andrea Superti-Furga, 
  • Pages: 2609-2616
  • First Published: 05 October 2011

New Syndrome

Full Access

Néstor–Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations†

Rubén Cabanillas,  Juan Cadiñanos,  José A.F. Villameytide,  Mercedes Pérez,  Jesús Longo,  José M. Richard,  Rebeca Álvarez,  Noelia S. Durán,  Rafael Illán,  Daniel J. González,  Carlos López-Otín, 
  • Pages: 2617-2625
  • First Published: 19 September 2011

Research Articles

Full Access

Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis†

Ioana Claudia Lakovschek,  Berthold Streubel,  Barbara Ulm, 
  • Pages: 2626-2633
  • First Published: 11 October 2011
Full Access

Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13†

Deborah Bruns, 
  • Pages: 2634-2640
  • First Published: 11 October 2011
Full Access

The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan†

Jun Maeda,  Hiroyuki Yamagishi,  Yoshiyuki Furutani,  Mitsuhiro Kamisago,  Tadashi Waragai,  Shinji Oana,  Hiroki Kajino,  Hiroyuki Matsuura,  Katsuhiko Mori,  Rumiko Matsuoka,  Toshio Nakanishi, 
  • Pages: 2641-2646
  • First Published: 11 October 2011
Full Access

Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene†

Tawfeg Ben-Omran,  Rehab Ali,  Mariam Almureikhi,  Seham Alameer,  Muna Al-Saffar,  Christopher A. Walsh,  Jillian M. Felie,  Ahmad Teebi, 
  • Pages: 2647-2653
  • First Published: 30 September 2011
Full Access

Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous origin†

Hans Gjørup,  Inger Kjær,  Liselotte Sonnesen,  Dorte Haubek,  Signe Sparre Beck-Nielsen,  Hanne Hintze,  Sven Poulsen, 
  • Pages: 2654-2660
  • First Published: 30 September 2011
Free Access

Ectopia lentis as the presenting and primary feature in Marfan syndrome†

Neda Zadeh,  Jonathan A. Bernstein,  Anna Kaisa Niemi,  Sarah Dugan,  Andrea Kwan,  David Liang,  James C. Hyland,  H. Eugene Hoyme,  Louanne Hudgins,  Melanie A. Manning, 
  • Pages: 2661-2668
  • First Published: 19 September 2011
Full Access

Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes†

Ok-Hwa Kim,  Hyunwoong Park,  Moon-Woo Seong,  Tae-Joon Cho,  Gen Nishimura,  Andrea Superti-Furga,  Sheila Unger,  Shiro Ikegawa,  In Ho Choi,  Hae-Ryong Song,  Hyun Woo Kim,  Won Joon Yoo,  Jong Sup Shim,  Chin Youb Chung,  Chang-Wug Oh,  Changhoon Jeong,  Kwang Soon Song,  Sang Gyo Seo,  Sung Im Cho,  Im Kyung Yeo,  So Yeon Kim,  Seungman Park,  Sung Sup Park, 
  • Pages: 2669-2680
  • First Published: 30 September 2011
Full Access

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications†

Roberto Giorda,  Silvana Beri,  M. Clara Bonaglia,  Luigina Spaccini,  Barbara Scelsa,  Emmanouil Manolakos,  Erika Della Mina,  Roberto Ciccone,  Orsetta Zuffardi, 
  • Pages: 2681-2687
  • First Published: 30 September 2011
Free Access

Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects†

Jeannie Visootsak,  William T. Mahle,  Paul M. Kirshbom,  Lillie Huddleston,  Marcia Caron-Besch,  Amy Ransom,  Stephanie L. Sherman, 
  • Pages: 2688-2691
  • First Published: 19 September 2011
Full Access

Chromosomal anomalies in the etiology of anorectal malformations: A review†

Carlo Marcelis,  Ivo de Blaauw,  Han Brunner, 
  • Pages: 2692-2704
  • First Published: 11 October 2011
Full Access

Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes†

Mélanie Beaulieu Bergeron,  Pierre Brochu,  Emmanuelle Lemyre,  Nicole Lemieux, 
  • Pages: 2705-2712
  • First Published: 30 September 2011
Full Access

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum†

Daniel E. Pineda-Alvarez,  Benjamin D. Solomon,  Erich Roessler,  Joan Z. Balog,  Donald W. Hadley,  Wadih M. Zein,  Casey K. Hadsall,  Brian P. Brooks,  Maximilian Muenke, 
  • Pages: 2713-2720
  • First Published: 04 October 2011
Full Access

Qualitative assessment of study materials and communication strategies used in studies that include DNA collection†‡

Mary M. Jenkins,  Erika Reed-Gross,  Wanda D. Barfield,  Christine E. Prue,  Margaret L. Gallagher,  Sonja A. Rasmussen,  Margaret A. Honein, 
  • Pages: 2721-2731
  • First Published: 04 October 2011
Full Access

Adrenal function in Smith–Lemli–Opitz syndrome†

Simona E. Bianconi,  Sandra K. Conley,  Meg F. Keil,  Ninet Sinaii,  Kristina I. Rother,  Forbes D. Porter,  Constantine A. Stratakis, 
  • Pages: 2732-2738
  • First Published: 11 October 2011
Full Access

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions†

Servi J.C. Stevens,  Conny M.A. van Ravenswaaij-Arts,  Jannie W.H. Janssen,  Jolien S. Klein Wassink-Ruiter,  Anthonie J. van Essen,  Trijnie Dijkhuizen,  Jeroen van Rheenen,  Regina Heuts-Vijgen,  Alexander P.A. Stegmann,  Eric E.J.G.L. Smeets,  John J.M. Engelen, 
  • Pages: 2739-2745
  • First Published: 11 October 2011

Clinical Reports

Full Access

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome†

Paolo Prontera,  Emanuela Garelli,  Ilenia Isidori,  Amedea Mencarelli,  Adriana Carando,  Margherita Cirillo Silengo,  Emilio Donti, 
  • Pages: 2746-2749
  • First Published: 11 October 2011
Full Access

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens†

Paola Ciotti,  Paola Mandich,  Emilia Bellone,  Paola Ceppa,  Marta Bovio,  Pietro Ameri,  Giancarlo Torre,  Roberto Fiocca,  Giovanni Murialdo, 
  • Pages: 2750-2753
  • First Published: 13 September 2011
Full Access

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization†

Érika L. Freitas,  Susan M. Gribble,  Milena Simioni,  Társis P. Vieira,  Roseane L. Silva-Grecco,  Marly A. S. Balarin,  Elena Prigmore,  Ana C. Krepischi-Santos,  Carla Rosenberg,  Karoly Szuhai,  Arie van Haeringen,  Nigel P. Carter,  Vera Lúcia Gil-da-Silva-Lopes, 
  • Pages: 2754-2761
  • First Published: 21 September 2011
Full Access

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?†

John S. Ferguson,  Shymalar Gunatheesan,  Glen Brice,  Rob Hastings,  Ruth Newbury-Ecob,  Peter S. Mortimer,  Sahar Mansour, 
  • Pages: 2762-2765
  • First Published: 22 September 2011
Full Access

Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx†

Lea Parsley,  Gary Bellus,  Michael Handler,  Anne Chun-Hui Tsai, 
  • Pages: 2766-2770
  • First Published: 19 September 2011
Full Access

Christianson syndrome in a patient with an interstitial Xq26.3 deletion†

Andreas Tzschach,  Reinhard Ullmann,  Alischo Ahmed,  Thomas Martin,  Georg Weber,  Oliver Decker-Schwering,  Fernand Pauly,  Mohammed Ghiath Shamdeen,  Wolfgang Reith,  Barbara Oehl-Jaschkowitz, 
  • Pages: 2771-2774
  • First Published: 19 September 2011
Full Access

Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion†

Michelle Dolan,  Susan A. Berry,  Karol R. Rubin,  Betsy Hirsch, 
  • Pages: 2775-2783
  • First Published: 19 September 2011
Full Access

Tibial hemimelia in Langer–Giedion syndrome with 8q23.1-q24.12 interstitial deletion†

Daniel Rocha Carvalho,  Savana Camilla Lima Santos,  Maria Dulce Valverde Oliveira,  Carlos Eduardo Speck-Martins, 
  • Pages: 2784-2787
  • First Published: 21 September 2011
Full Access

Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins†

Prajnya Ranganath,  Meenal Agarwal,  Shubha R. Phadke, 
  • Pages: 2788-2790
  • First Published: 30 September 2011
Full Access

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8†

Daniela Turchetti,  Eva Pompilii,  Elisabetta Magrini,  Maria Paola Bonasoni,  Maria Carla Pittalis,  Maria Segata,  Annalisa Pession,  Donatella Santini,  Gianluigi Pilu,  Marco Seri, 
  • Pages: 2791-2794
  • First Published: 19 September 2011
Full Access

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features†

Jun Liao,  Stephanie J. DeWard,  Suneeta Madan-Khetarpal,  Urvashi Surti,  Jie Hu, 
  • Pages: 2795-2800
  • First Published: 11 October 2011
Full Access

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)†‡

Ziva Ben-Neriah,  Rachel Michaelson-Cohen,  Michal Inbar-Feigenberg,  Michael Nadjari,  Sharon Zeligson,  Avraham Shaag,  Shamir Zenvirt,  Orly Elpeleg,  Ephrat Levy-Lahad, 
  • Pages: 2801-2806
  • First Published: 11 October 2011
Full Access

Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?†

John C.K. Barber,  Shuwen Huang,  Mark S. Bateman,  Amanda L. Collins, 
  • Pages: 2807-2815
  • First Published: 30 September 2011
Full Access

Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2†

E.F. Sanford,  K. Bermudez-Wagner,  L.J.B. Jeng,  K.A. Rauen,  Anne M. Slavotinek, 
  • Pages: 2816-2820
  • First Published: 30 September 2011
Full Access

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations†‡

Ronen Spiegel,  Angus Dobbie,  Corina Hartman,  Liat de Vries,  Sian Ellard,  Stavit A. Shalev, 
  • Pages: 2821-2825
  • First Published: 30 September 2011
Full Access

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters†

Victoria Harrison,  Lyndsey Connell,  Jesse Hayesmoore,  Joanna McParland,  Michael G. Pike,  Edward Blair, 
  • Pages: 2826-2831
  • First Published: 30 September 2011
Full Access

Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration†

Ichiro Kuki,  Hisashi Kawawaki,  Shin Okazaki,  Shihoko Kimura-Ohba,  Tomoaki Nakano,  Hiroko Fukushima,  Takeshi Inoue,  Kiyotaka Tomiwa,  Masayuki Itoh, 
  • Pages: 2832-2837
  • First Published: 30 September 2011
Full Access

New case of Primrose syndrome with mild intellectual disability†

Renata Posmyk,  Ryszard Leśniewicz,  Monika Chorąży,  Sławomir Wołczyński, 
  • Pages: 2838-2840
  • First Published: 09 September 2011
Full Access

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes†

Catherine Sarri,  Sofia Douzgou,  Yolanda Gyftodimou,  Zeynep Tümer,  Kirstine Ravn,  Angela Pasparaki,  Theologia Sarafidou,  Harry Kontos,  Haris Kokotas,  Georgia Karadima,  Maria Grigoriadou,  Effie Pandelia,  Virginia Theodorou,  Nicholas K. Moschonas,  Michael B. Petersen, 
  • Pages: 2841-2854
  • First Published: 30 September 2011
Full Access

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?†

Olivier M. Vanakker,  Bart P. Leroy,  Leon J. Schurgers,  Cees Vermeer,  Paul J. Coucke,  Anne De Paepe, 
  • Pages: 2855-2859
  • First Published: 30 September 2011
Full Access

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?†

Sheila Unger,  Ekkehart Lausch,  Franco Stanzial,  Gabriele Gillessen-Kaesbach,  Irina Stefanova,  Cristina Maria Di Stefano,  Enrico Bertini,  Carlo Dionisi-Vici,  Bernd Nilius,  Bernhard Zabel,  Andrea Superti-Furga, 
  • Pages: 2860-2864
  • First Published: 30 September 2011
Full Access

Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP†

I.M. Ben Amor,  F. Rauch,  K. Gruenwald,  M. Weis,  D.R. Eyre,  P. Roughley,  F.H. Glorieux,  R. Morello, 
  • Pages: 2865-2870
  • First Published: 30 September 2011
Full Access

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion†‡§

Natalie M. Gallant,  Erin Baldwin,  Noriko Salamon,  Katrina M. Dipple,  Fabiola Quintero-Rivera, 
  • Pages: 2871-2878
  • First Published: 12 October 2011
Full Access

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy†

Hirotomo Saitsu,  Noboru Igarashi,  Mitsuhiro Kato,  Ippei Okada,  Tomoki Kosho,  Osamu Shimokawa,  Yuki Sasaki,  Kiyomi Nishiyama,  Yoshinori Tsurusaki,  Hiroshi Doi,  Noriko Miyake,  Naoki Harada,  Kiyoshi Hayasaka,  Naomichi Matasumoto, 
  • Pages: 2879-2884
  • First Published: 11 October 2011
Full Access

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder†

Ghada M.H. Abdel-Salam,  Noriko Miyake,  Maha M. Eid,  Mohamed S. Abdel-Hamid,  Nihal A. Hassan,  Ola M. Eid,  Laila K. Effat,  Tarek H. El-Badry,  Ghada Y. El-Kamah,  Mohamed El-Darouti,  Naomichi Matsumoto, 
  • Pages: 2885-2896
  • First Published: 11 October 2011

Correspondence

Full Access

Genetic contribution of bicuspid aortic valve morphology†

Borja Fernández,  Ana C. Durán,  M. Carmen Fernández,  Josep M. Arqué,  Miguel Such,  Valentín Sans-Coma, 
  • Pages: 2897-2898
  • First Published: 11 October 2011
Full Access

Genetic contribution to bicuspid aortic valve morphology†‡

Robert B. Hinton, 
  • Pages: 2899-2900
  • First Published: 11 October 2011
Full Access

ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis†

Saurabh Guleria, 
  • Page: 2901
  • First Published: 11 October 2011
Full Access

Rhombencephalosynapsis is a malformation deserving of further study†

Melissa Ramocki,  Fernando Scaglia,  Jeremy Jones,  Gary Clark, 
  • Page: 2902
  • First Published: 11 October 2011

Corrigenda

Free Access

Corrigendum to “A New Microdeletion Syndrome of 5q31.3 Characterized by Severe Developmental Delays, Distinctive Facial Features, and Delayed Myelination”†

Keiko Shimojima,  Bertrand Isidor,  Cédric Le Caignec,  Akiko Kondo,  Shinji Sakata,  Kousaku Ohno,  Toshiyuki Yamamoto, 
  • Page: 2903
  • First Published: 21 October 2011