• Issue

    American Journal of Medical Genetics Part A: Volume 170, Issue 4

    i, 815-1103
    April 2016
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Cover Image

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Cover Image, Volume 170A, Number 4, April 2016

Karen G. Scheps,  Liliana Francipane,  Julián Nevado,  Nora Basack,  Myriam Attie,  María Fernanda Bergonzi,  Gloria E. Cerrone,  Pablo Lapunzina,  Viviana Varela, 
  • Page: i
  • First Published: 18 March 2016
Cover Image, Volume 170A, Number 4, April 2016

The cover image, by Karen G. Scheps et al., is based on the Research Article Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability, DOI: 10.1002/ajmg.a.37532.

Issue Information

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Table of Contents, Volume 170A, Number 4, April 2016

  • Pages: 815-819
  • First Published: 18 March 2016
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Publication schedule for 2016

  • Page: 820
  • First Published: 18 March 2016

the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah Levenson

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Precision medicine company takes aim at genetically based epilepsy: Pairnomix offers individualized genetic research services

  • Pages: 821-822
  • First Published: 18 March 2016
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Spectrum of gene variants linked to cystic fibrosis in nonwhites: Research finds certain screening panels may be inadequate

  • Pages: 822-823
  • First Published: 18 March 2016
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In this issue

  • Page: 824
  • First Published: 18 March 2016

Research Articles

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Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study

Robert E. Meyer,  Gang Liu,  Suzanne M. Gilboa,  Mary K. Ethen,  Arthur S. Aylsworth,  Cynthia M. Powell,  Timothy J. Flood,  Cara T. Mai,  Ying Wang,  Mark A. Canfield,  for the National Birth Defects Prevention Network , 
  • Pages: 825-837
  • First Published: 10 December 2015
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Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention

Akila Subramaniam,  Adam P. Jacobs,  Ying Tang,  Cherry Neely,  Joseph B. Philips III,  Joseph R. Biggio,  Nathaniel H. Robin,  Rodney K. Edwards, 
  • Pages: 838-846
  • First Published: 05 January 2016

Editorial

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Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?

Tomoki Kosho,  John C. Carey, 
  • Pages: 847-849
  • First Published: 08 March 2016

Invited Comment

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Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?

Joan K. Morris, 
  • Pages: 850-851
  • First Published: 06 January 2016

Rapid Communication

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Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

Toshiki Takenouchi,  Nobuhiko Okamoto,  Shinobu Ida,  Tomoko Uehara,  Kenjiro Kosaki, 
  • Pages: 852-855
  • First Published: 28 December 2015

Conference Report

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12th International CHARGE syndrome conference proceedings

Donna M. Martin,  Nancy Salem-Hartshorne,  Timothy S. Hartshorne,  Peter C. Scacheri,  Margaret A. Hefner, 
  • Pages: 856-869
  • First Published: 11 January 2016

Research Articles

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Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

Natalia Gomez-Ospina,  Jonathan A. Bernstein, 
  • Pages: 870-880
  • First Published: 12 January 2016
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A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

Melissa Lah,  Tejasvi Niranjan,  Sujata Srikanth,  Lynda Holloway,  Charles E. Schwartz,  Tao Wang,  David D. Weaver, 
  • Pages: 881-890
  • First Published: 24 January 2016

New Syndrome

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Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R

Paldeep Singh Atwal,  Sophie Blease,  Alicia Braxton,  Julia Graves,  Weimin He,  Richard Person,  Leah Slattery,  Jonathan Adam Bernstein,  Louanne Hudgins, 
  • Pages: 891-895
  • First Published: 21 December 2015

Research Articles

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Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations

Seemi Ayub,  Macoura Gadji,  Kada Krabchi,  Sylvie Côté,  Jean Gekas,  Bruno Maranda,  Régen Drouin, 
  • Pages: 896-907
  • First Published: 29 January 2016
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Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

Satoshi Watanabe,  Kenji Shimizu,  Hirofumi Ohashi,  Rika Kosaki,  Nobuhiko Okamoto,  Keiko Shimojima,  Toshiyuki Yamamoto,  Yasutsugu Chinen,  Seiji Mizuno,  Yuri Dowa,  Natsuko Shiomi,  Yoshihiro Toda,  Katsuya Tashiro,  Koichi Shichijo,  Kazunori Minatozaki,  Seijiro Aso,  Kyoko Minagawa,  Yoko Hiraki,  Osamu Shimokawa,  Tadashi Matsumoto,  Masafumi Fukuda,  Hiroyuki Moriuchi,  Koh-ichiro Yoshiura,  Tatsuro Kondoh, 
  • Pages: 908-917
  • First Published: 18 January 2016
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Muenke syndrome: An international multicenter natural history study

Paul Kruszka,  Yonit A. Addissie,  Colin M. P. Yarnell,  Donald W. Hadley,  Maria J. Guillen Sacoto,  Petra Platte,  Yvonne Paelecke,  Hartmut Collmann,  Nicole Snow,  Tilmann Schweitzer,  Simeon A. Boyadjiev,  Christos Aravidis,  Samantha E. Hall,  John B. Mulliken,  Tony Roscioli,  Maximilian Muenke, 
  • Pages: 918-929
  • First Published: 06 January 2016
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Family perspectives about Down syndrome

Brian G. Skotko,  Susan P. Levine,  Eric A. Macklin,  Richard D. Goldstein, 
  • Pages: 930-941
  • First Published: 22 December 2015
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Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

Erkan Sari,  Abdullah Bereket,  Ediz Yeşilkaya,  Firdevs Baş,  Rüveyde Bundak,  Banu Küçükemre Aydın,  Şükran Darcan,  Bumin Dündar,  Muammer Büyükinan,  Cengiz Kara,  Erdal Adal,  Ayşehan Akıncı,  Mehmet Emre Atabek,  Fatma Demirel,  Nurullah Çelik,  Behzat Özkan,  Bayram Özhan,  Zerrin Orbak,  Betül Ersoy,  Murat Doğan,  Ali Ataş,  Serap Turan,  Damla Gökşen,  Ömer Tarım,  Bilgin Yüksel,  Oya Ercan,  Şükrü Hatun,  Enver Şimşek,  Ayşenur Ökten,  Ayhan Abacı,  Hakan Döneray,  Mehmet Nuri Özbek,  Mehmet Keskin,  Hasan Önal,  Nesibe Akyürek,  Kezban Bulan,  Derya Tepe,  Hamdi Cihan Emeksiz,  Korcan Demir,  Deniz Kızılay,  Ali Kemal Topaloğlu,  Erdal Eren,  Samim Özen,  Hüseyin Demirbilek,  Saygın Abalı,  Leyla Akın,  Beray Selver Eklioğlu,  Sultan Kaba,  Ahmet Anık,  Serpil Baş,  Tolga Unuvar,  Halil Sağlam,  Semih Bolu,  Tolga Özgen,  Durmuş Doğan,  Esra Deniz Çakır,  Yaşar Şen,  Nesibe Andıran,  Filiz Çizmecioğlu,  Olcay Evliyaoğlu,  Gülay Karagüzel,  Özgür Pirgon,  Gönül Çatlı,  Hatice Dilek Can,  Fatih Gürbüz,  Çiğdem Binay,  Veysel Nijat Baş,  Kürşat Fidancı,  Davut Gül,  Adem Polat,  Cengizhan Acıkel,  Peyami Cinaz,  Feyza Darendeliler, 
  • Pages: 942-948
  • First Published: 20 January 2016
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Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature

David J. Bunyan,  Maria Baffico,  Lucia Capone,  Silvia Vannelli,  Lorenzo Iughetti,  Sébastien Schmitt,  Emma-Jane Taylor,  Adam A. Herridge,  Deborah Shears,  Antonino Forabosco,  Domenico A. Coviello, 
  • Pages: 949-957
  • First Published: 24 December 2015
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CLTC as a clinically novel gene associated with multiple malformations and developmental delay

Joseph DeMari,  Cameron Mroske,  Sha Tang,  Joseph Nimeh,  Ryan Miller,  Robert R. Lebel, 
  • Pages: 958-966
  • First Published: 29 January 2016
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Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

Sarah E. Grams,  Bob Argiropoulos,  Matthew Lines,  Pranesh Chakraborty,  Jean Mcgowan-Jordan,  Michael T. Geraghty,  Marilyn Tsang,  Marthand Eswara,  Kamer Tezcan,  Kelly L. Adams,  Leesa Linck,  Patricia Himes,  Dana Kostiner,  Dina J. Zand,  Heather Stalker,  Daniel J. Driscoll,  Taosheng Huang,  Jill A. Rosenfeld,  Xu Li,  Emily Chen, 
  • Pages: 967-977
  • First Published: 22 December 2015
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Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

Gary S. Gottesman,  Katherine L. Madson,  William H. McAlister,  Angela Nenninger,  Deborah Wenkert,  Steven Mumm,  Michael P. Whyte, 
  • Pages: 978-985
  • First Published: 14 January 2016
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Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

Karen G. Scheps,  Liliana Francipane,  Julián Nevado,  Nora Basack,  Myriam Attie,  María Fernanda Bergonzi,  Gloria E. Cerrone,  Pablo Lapunzina,  Viviana Varela, 
  • Pages: 986-991
  • First Published: 11 January 2016
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Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene

Rasim O. Rosti,  Esra Dikoglu,  Maha S. Zaki,  Ghada Abdel-Salam,  Nawal Makhseed,  Jordan C. Sese,  Damir Musaev,  Basak Rosti,  Mary J. Harbert,  Marilyn C. Jones,  Keith K. Vaux,  Joseph G. Gleeson, 
  • Pages: 992-998
  • First Published: 05 January 2016
Open Access

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

Megan R. Glassford,  Jill A. Rosenfeld,  Alexa A. Freedman,  Michael E. Zwick,  Unique Rare Chromosome Disorder Support Group ,  Jennifer G. Mulle, 
  • Pages: 999-1006
  • First Published: 06 January 2016
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Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts

Julia E. VanderMeer,  Tonia C. Carter,  Faith Pangilinan,  Adam Mitchell,  Emma Kurnat-Thoma,  Peadar N. Kirke,  James F. Troendle,  Anne M. Molloy,  Ronald G. Munger,  Marcia L. Feldkamp,  Maria A. Mansilla,  James L. Mills,  Jeff C. Murray,  Lawrence C. Brody, 
  • Pages: 1007-1016
  • First Published: 20 January 2016

Clinical Reports

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Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

Claire G. Salter,  Diana Baralle,  Morag N. Collinson,  James E. Self, 
  • Pages: 1017-1022
  • First Published: 15 January 2016
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FTO variant associated with malformation syndrome

Luis Rohena,  Michelle Lawson,  Edwin Guzman,  Mythily Ganapathi,  Megan T. Cho,  Eden Haverfield,  Kwame Anyane-Yeboa, 
  • Pages: 1023-1028
  • First Published: 24 December 2015
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Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit

Yoshika Akizawa,  Toshiyuki Miyashita,  Ryo Sasaki,  Reiko Nagata,  Ryoko Aoki,  Ken Ishitani,  Yoji Nagashima,  Hideo Matsui,  Kayoko Saito, 
  • Pages: 1029-1034
  • First Published: 18 January 2016
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Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome

Soumeyya Halayem,  Mariem Hamza,  Faouzi Maazoul,  Hadhemi Ben Turkia,  Maissa Touati,  Neji Tebib,  Ridha Mrad,  Asma Bouden, 
  • Pages: 1035-1039
  • First Published: 22 December 2015
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Trisomy 4 mosaicism: Delineation of the phenotype

Arjan Bouman,  Anne-Marie van der Kevie-Kersemaekers,  Karin Huijsdens-van Amsterdam,  Nordin Dahhan,  Lia Knegt,  Fleur Vansenne,  Jan Maarten Cobben, 
  • Pages: 1040-1045
  • First Published: 20 January 2016
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Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature

Ana Pinheiro Machado Canton,  Mirian Yumie Nishi,  Tatiane Katsue Furuya,  Rosimeire Aparecida Roela,  Alexander Augusto Lima Jorge, 
  • Pages: 1046-1049
  • First Published: 22 December 2015
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Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

Mona K. Mekkawy,  Inas M. Mazen,  Alaa K. Kamel,  Inga Vater,  Maha S. Zaki, 
  • Pages: 1050-1058
  • First Published: 08 January 2016
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A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Thuong T. Ha,  Lynette G. Sadleir,  Simone A. Mandelstam,  Sarah J. Paterson,  Ingrid E. Scheffer,  Jozef Gecz,  Mark A. Corbett, 
  • Pages: 1059-1063
  • First Published: 28 December 2015
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Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor

Jessie McClelland,  Bronwyn Burgess,  Patricia Crock,  Himanshu Goel, 
  • Pages: 1064-1069
  • First Published: 06 January 2016
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Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Resham Ejaz,  Wen Qin,  Lijia Huang,  Susan Blaser,  Martine Tetreault,  Taila Hartley,  Kym M. Boycott,  Melissa T. Carter,  Care4Rare Canada Consortium , 
  • Pages: 1070-1075
  • First Published: 11 January 2016
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A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia

Keiko Shimojima,  Nobuhiko Okamoto,  Toshiyuki Yamamoto, 
  • Pages: 1076-1079
  • First Published: 06 January 2016
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An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

Luisa Mackenroth,  Björn Fischer-Zirnsak,  Johannes Egerer,  Jochen Hecht,  Tilmann Kallinich,  Werner Stenzel,  Birgit Spors,  Arpad von Moers,  Stefan Mundlos,  Uwe Kornak,  Kerstin Gerhold,  Denise Horn, 
  • Pages: 1080-1085
  • First Published: 22 January 2016

Research Letters

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Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up

Vijay S. Tonk,  Golder N. Wilson, 
  • Pages: 1086-1087
  • First Published: 28 December 2015
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Stippled calcification in an infant with a recurrent SRCAP gene mutation

Hiroko Yagi,  Masaki Takagi,  Satoshi Narumi,  Tomonobu Hasegawa,  Gen Nishimura,  Yukihiro Hasegawa, 
  • Pages: 1088-1091
  • First Published: 20 January 2016
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Long-term treatment of neurofibromatosis 1 with ketotifen. A report of three cases

Pedro Rodriguez-Jimenez,  Pablo Chicharro,  Elia Muñoz,  Esteban Dauden, 
  • Pages: 1092-1094
  • First Published: 06 January 2016
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9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition

Megan Crone,  Mary Ann Thomas, 
  • Pages: 1095-1098
  • First Published: 05 January 2016

Correspondence

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Letter to the editor: Response to two recent articles regarding achondroplasia

Richard M. Pauli, 
  • Pages: 1099-1100
  • First Published: 11 January 2016
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Response: “Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy” and “is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?”

Klane K. White,  Ravi Savarirayan,  Michael J. Goldberg,  William MacKenzie,  Viviana Bompadre,  Michael B. Bober,  Tae-Joon Cho,  Julie Hoover-Fong,  Shawn E. Parnell,  Cathleen Raggio,  Samantha A. Spencer,  Jeffery W. Campbell,  David M. Rapoport,  Yemiserach Kifle,  Marcella Blackledge, 
  • Pages: 1101-1103
  • First Published: 11 January 2016