• Issue

    American Journal of Medical Genetics Part A: Volume 173, Issue 7

    i, 1725-1995
    July 2017
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COVER IMAGE

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Cover Image, Volume 173A, Number 7, July 2017

Jennifer M. Kalish,  Leslie G. Biesecker,  Frederic Brioude,  Matthew A. Deardorff,  Alessandra Di Cesare-Merlone,  Todd Druley,  Giovanni B. Ferrero,  Pablo Lapunzina,  Lidia Larizza,  Saskia Maas,  Marina Macchiaiolo,  Eamonn R. Maher,  Silvia Maitz,  Julian A. Martinez-Agosto,  Alessandro Mussa,  Peter Robinson,  Silvia Russo,  Angelo Selicorni,  Raoul C. Hennekam, 
  • Page: i
  • First Published: 15 June 2017
Cover Image, Volume 173A, Number 7, July 2017

The cover image, by Jennifer M. Kalish et al., is based on the Original Article Nomenclature and definition in asymmetric regional body overgrowth, DOI: 10.1002/ajmg.a.38266.

ISSUE INFORMATION

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Table of Contents, Volume 173A, Number 7, July 2017

  • Pages: 1725-1729
  • First Published: 15 June 2017
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Publication schedule for 2017

  • Page: 1730
  • First Published: 15 June 2017

THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY DEBORAH LEVENSON

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Proposed federal legislation could compromise genetic privacy: Bill advocates say that law will simplify regulations on workplace wellness programs

  • Pages: 1731-1732
  • First Published: 15 June 2017
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Agreement reached on initially discordant genetic variant interpretations: Paper highlights data-sharing effort by competing labs

  • Pages: 1732-1733
  • First Published: 15 June 2017
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In this issue

  • Page: 1734
  • First Published: 15 June 2017

ORIGINAL ARTICLES

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Nomenclature and definition in asymmetric regional body overgrowth

Jennifer M. Kalish,  Leslie G. Biesecker,  Frederic Brioude,  Matthew A. Deardorff,  Alessandra Di Cesare-Merlone,  Todd Druley,  Giovanni B. Ferrero,  Pablo Lapunzina,  Lidia Larizza,  Saskia Maas,  Marina Macchiaiolo,  Eamonn R. Maher,  Silvia Maitz,  Julian A. Martinez-Agosto,  Alessandro Mussa,  Peter Robinson,  Silvia Russo,  Angelo Selicorni,  Raoul C. Hennekam, 
  • Pages: 1735-1738
  • First Published: 05 May 2017
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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Emma M. Wade,  Zandra A. Jenkins,  Philip B. Daniel,  Tim Morgan,  Marie C. Addor,  Lesley C. Adés,  Debora Bertola,  Axel Bohring,  Erin Carter,  Tae-Joon Cho,  Christa M. de Geus,  Hans-Christoph Duba,  Elaine Fletcher,  Kinga Hadzsiev,  Raoul C. M. Hennekam,  Chong A. Kim,  Deborah Krakow,  Eva Morava,  Teresa Neuhann,  David Sillence,  Andrea Superti-Furga,  Hermine E. Veenstra-Knol,  Dagmar Wieczorek,  Louise C. Wilson,  David M. Markie,  Stephen P. Robertson, 
  • Pages: 1739-1746
  • First Published: 12 May 2017
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Mandibulofacial dysostosis Bauru type: Refining the phenotype

Priscila P. Moura,  Nancy M. Kokitsu-Nakata,  Marília S. Yatabe,  Siulan Vendramini-Pittoli,  Pedro H. Hori,  Maria L. Guion-Almeida,  Daniela G. Garib,  Antonio Richieri-Costa,  Roseli M. Zechi-Ceide, 
  • Pages: 1747-1753
  • First Published: 30 May 2017
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The impact of a sibling's life-limiting genetic condition on adult brothers and sisters

Erica Brown,  Jane Coad,  Anita Franklin, 
  • Pages: 1754-1762
  • First Published: 27 April 2017
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Wiedemann–Rautenstrauch syndrome: A phenotype analysis

Stefano Paolacci,  Debora Bertola,  José Franco,  Shehla Mohammed,  Marco Tartaglia,  Bernd Wollnik,  Raoul C. Hennekam, 
  • Pages: 1763-1772
  • First Published: 26 April 2017
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Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II

Nesreen K. Al-Jezawi,  Bassam R. Ali,  Lihadh Al-Gazali, 
  • Pages: 1773-1781
  • First Published: 30 April 2017
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Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

Ying Qiao,  Chansonette Badduke,  Flamingo Tang,  David Cowieson,  Sally Martell,  Suzanne M. E. Lewis,  Maria S. Peñaherrera,  Wendy P. Robinson,  Allen Volchuk,  Evica Rajcan-Separovic, 
  • Pages: 1782-1791
  • First Published: 05 May 2017
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A comparison of the functional health of children with Costello syndrome in 1999 and in 2015

Viviana Bompadre,  Tressa Mattioli-Lewis,  Walid K. Yassir,  Michael J. Goldberg, 
  • Pages: 1792-1795
  • First Published: 09 May 2017
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Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

Angela C. Summers,  Joseph Snow,  Edythe Wiggs,  Alexander G. Liu,  Camilo Toro,  Andrea Poretti,  Wadih M. Zein,  Brian P. Brooks,  Melissa A. Parisi,  Sara Inati,  Dan Doherty,  Meghana Vemulapalli,  Jim C. Mullikin,  NISC Comparative Sequencing Program ,  Thierry Vilboux,  William A. Gahl,  Meral Gunay-Aygun, 
  • Pages: 1796-1812
  • First Published: 12 May 2017
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Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia

Kriti D. Khandelwal,  Charlotte W. Ockeloen,  Hanka Venselaar,  Cécile Boulanger,  Bénédicte Brichard,  Etienne Sokal,  Rolph Pfundt,  Tuula Rinne,  Ellen van Beusekom,  Marjon Bloemen,  Gerrit Vriend,  Nicole Revencu,  Carine E. L. Carels,  Hans van Bokhoven,  Huiqing Zhou, 
  • Pages: 1813-1820
  • First Published: 17 May 2017
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Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities

Karlijn Vermeulen,  Anneke de Boer,  Joost G. E. Janzing,  David A. Koolen,  Charlotte W. Ockeloen,  Marjolein H. Willemsen,  Floor M. Verhoef,  Patricia A. M. van Deurzen,  Linde van Dongen,  Hans van Bokhoven,  Jos I. M. Egger,  Wouter G. Staal,  Tjitske Kleefstra, 
  • Pages: 1821-1830
  • First Published: 12 May 2017
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Defining mandibular morphology in Robin sequence: A matched case-control study

Srinivas M. Susarla,  Nefeli Vasilakou,  Hitesh Kapadia,  Mark Egbert,  Richard A. Hopper,  Kelly N. Evans, 
  • Pages: 1831-1838
  • First Published: 13 April 2017
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Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

Faheem Malam,  Taila Hartley,  Meredith K. Gillespie,  Christine M. Armour,  Erika Bariciak,  Gail E. Graham,  Sarah M. Nikkel,  Julie Richer,  Sarah L. Sawyer,  Kym M. Boycott,  David A. Dyment, 
  • Pages: 1839-1847
  • First Published: 09 May 2017
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6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy

Andrew Cheng,  Mary Beth P. Dinulos,  Whitney Neufeld-Kaiser,  Jill Rosenfeld,  McKenna Kyriss,  Suneeta Madan-Khetarpal,  Hiba Risheg,  Peter H. Byers,  Yajuan J. Liu, 
  • Pages: 1848-1857
  • First Published: 02 May 2017
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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion

Carolyn C. Jackson,  Alain Lefèvre-Utile,  Anne Guimier,  Valérie Malan,  Julie Bruneau,  Antoine Gessain,  Olivier Cassar,  Jeanne Amiel,  Aurélie Cobat,  Vimel Rattina,  Laurent Abel,  Jean-Laurent Casanova,  Stéphane Blanche, 
  • Pages: 1858-1865
  • First Published: 09 May 2017
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KBG syndrome: An Australian experience

Natalia Murray,  Bronwyn Burgess,  Robin Hay,  Alison Colley,  Sulekha Rajagopalan,  Julie McGaughran,  Chirag Patel,  Annabelle Enriquez,  Linda Goodwin,  Zornitza Stark,  Tiong Tan,  Meredith Wilson,  Tony Roscioli,  Mustafa Tekin,  Himanshu Goel, 
  • Pages: 1866-1877
  • First Published: 27 April 2017
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Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye

Christina Evers,  Angelika Seitz,  Birgit Assmann,  Thomas Opladen,  Stephanie Karch,  Katrin Hinderhofer,  Martin Granzow,  Nagarajan Paramasivam,  Roland Eils,  Nicolle Diessl,  Claus R. Bartram,  Ute Moog, 
  • Pages: 1878-1886
  • First Published: 10 May 2017

CLINICAL REPORT

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A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome

Gabrielle Lemire,  Julie Gauthier,  Jean-François Soucy,  Marie-Ange Delrue, 
  • Pages: 1887-1890
  • First Published: 27 April 2017

ORIGINAL ARTICLE

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Sclerotic bone lesions in tuberous sclerosis complex: A genotype–phenotype study

Susana Boronat,  Ignasi Barber,  Elizabeth Anne Thiele, 
  • Pages: 1891-1895
  • First Published: 09 May 2017

CLINICAL REPORTS

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Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

Alberto Casertano,  Paolo Fontana,  Raoul C. Hennekam,  Marco Tartaglia,  Rita Genesio,  Tina Barbaro Dieber,  Lucia Ortega,  Lucio Nitsch,  Daniela Melis, 
  • Pages: 1896-1902
  • First Published: 30 April 2017
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Acne conglobata in a long-term survivor with trisomy 13, accompanied by selective IgM deficiency

Chiyoko N. Inoue,  Yoshiko Tanaka,  Nobuko Tabata, 
  • Pages: 1903-1906
  • First Published: 07 May 2017
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Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta

Amanda M. Ackermann,  Michael A. Levine, 
  • Pages: 1907-1912
  • First Published: 24 April 2017
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DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus

Emilia Cirillo,  Giuliana Giardino,  Vera Gallo,  Giovanni Galasso,  Roberta Romano,  Roberta D'Assante,  Giulia Scalia,  Luigi Del Vecchio,  Lucio Nitsch,  Rita Genesio,  Claudio Pignata, 
  • Pages: 1913-1918
  • First Published: 24 April 2017
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Vascular twin nevi

Senay Agirgol,  Hatice Nur Ozturk,  Tugba Ozkok Akbulut,  Ceyda Gunduzoglu,  Leyli Kadriye Koc,  Zafer Turkoglu, 
  • Pages: 1919-1921
  • First Published: 27 April 2017
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Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

Rita Fischetto,  Orazio Palumbo,  Federica Ortolani,  Pietro Palumbo,  Maria Pia Leone,  Francesco Andrea Causio,  Sabino Pesce,  Maria Christina Digilio,  Massimo Carella,  Francesco Papadia, 
  • Pages: 1922-1930
  • First Published: 13 April 2017
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Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

Jennifer Hague,  Isabelle Delon,  Kim Brugger,  Howard Martin,  Leanne Sparnon,  Ingrid Simonic,  Stephen Abbs,  Soo-Mi Park, 
  • Pages: 1931-1935
  • First Published: 12 May 2017
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Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

Antoine Poli,  Yoann Vial,  Damien Haye,  Sandrine Passemard,  Manuel Schiff,  Hala Nasser,  Catherine Delanoe,  Emma Cuadro,  Rémi Kom,  Narcisse Elanga,  Anne Favre,  Séverine Drunat,  Alain Verloes, 
  • Pages: 1936-1942
  • First Published: 25 April 2017
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Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome

Viola Alesi,  Maria L. Dentici,  Fabrizia Restaldi,  Valeria Orlando,  Maria T. Liambo,  Chiara Calacci,  Rossella Capolino,  Maria C. Digilio,  May El Hachem,  Antonio Novelli,  Andrea Diociaiuti,  Bruno Dallapiccola, 
  • Pages: 1943-1946
  • First Published: 10 May 2017
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Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature

Anri Hayashi,  Tomohiro Kumada,  Fumihito Nozaki,  Ikuko Hiejima,  Minoru Shibata,  Takashi Kusunoki,  Tatsuya Fujii, 
  • Pages: 1947-1950
  • First Published: 09 May 2017
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PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Kaylee Park,  Laurie E. Seltzer,  Emily Tuttle,  Ghayda M. Mirzaa,  Alex R. Paciorkowski, 
  • Pages: 1951-1954
  • First Published: 02 May 2017
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Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation

Nancy Choucair,  Mariam Rajab,  André Mégarbané,  Eliane Chouery, 
  • Pages: 1955-1960
  • First Published: 09 May 2017
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Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review

Han Hyuk Lim,  Hong Ryang Kil,  Sun Hoe Koo, 
  • Pages: 1961-1964
  • First Published: 09 May 2017
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Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

Maria Lisa Dentici,  Marcello Niceta,  Francesca Pantaleoni,  Sabina Barresi,  Paola Bencivenga,  Bruno Dallapiccola,  Maria Cristina Digilio,  Marco Tartaglia, 
  • Pages: 1965-1969
  • First Published: 07 May 2017
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Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

Laura Travan,  Samuele Naviglio,  Angela De Cunto,  Andrea Pellegrin,  Vanna Pecile,  Alessandro Mauro Spinelli,  Stefania Cappellani,  Flavio Faletra, 
  • Pages: 1970-1974
  • First Published: 14 April 2017
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Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease

Anne Ronan,  Angela Ingrey,  Natalia Murray,  Paul Chee, 
  • Pages: 1975-1978
  • First Published: 12 May 2017

RESEARCH LETTERS

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A rapid gene sequencing panel strategy to facilitate precision neonatal medicine

Luca Brunelli,  Rong Mao,  Sabrina Malone Jenkins,  Steven B. Bleyl,  Shale A. Dames,  Christine E. Miller,  Betsy Ostrander,  Tatiana Tvrdik,  Seth Andrews,  Josue Flores,  Shrena Patel,  James M. Gudgeon,  Susan Schaefer, 
  • Pages: 1979-1982
  • First Published: 12 May 2017
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Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. (†)

Antonio Pérez-Aytés,  José V. Arcos-Machancoses,  Purificacion Marin Reina,  M. Teresa Jimenez Busselo,  Francisco Martínez, 
  • Pages: 1983-1984
  • First Published: 09 May 2017
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Trisomy 18 and holoprosencephaly

Rafael F. M. Rosa,  Elisa P. E. Correia,  Cristina S. Bastos,  Gabriela S. da Silva,  Jamile D. Correia,  Ernani B. da Rosa,  Daniélle B. Silveira,  Luciano V. Targa,  André C. da Cunha,  Paulo R. G. Zen, 
  • Pages: 1985-1987
  • First Published: 27 April 2017

CORRESPONDENCE

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Response to: Toriello et al., “Update on the Toriello–Carey Syndrome.” Further delineation of a young woman with deletion 1q42.12-q42.2

Alexandra Garza-Flores,  Pamela Hawley,  Jonathan Picker,  Elizabeth Tannebring,  Matthew A. Deardorff,  Angela E. Lin, 
  • Pages: 1988-1991
  • First Published: 26 April 2017
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Response to: Milosavljevic et al. “Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature”

Blair Stevens,  Anthony Johnson,  Thomas Rowe,  Rebecca Carter,  Roopali Donepudi, 
  • Pages: 1992-1993
  • First Published: 05 May 2017
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Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing

Chumei Li,  Yongdong Wang,  Marta Szybowska, 
  • Pages: 1994-1995
  • First Published: 05 May 2017