• Issue

    American Journal of Medical Genetics Part A: Volume 120A, Issue 4

    447-598
    1 August 2003
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Research Articles

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Living with achondroplasia in an average-sized world: An assessment of quality of life†

Sarah E. Gollust,  Richard E. Thompson,  Holly C. Gooding,  Barbara B. Biesecker, 
  • Pages: 447-458
  • First Published: 18 June 2003
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Case-control study of cleft lip or palate after maternal use of topical corticosteroids during pregnancy

Matthew J. Edwards,  Kingsley Agho,  John Attia,  Pedro Diaz,  Teresa Hayes,  Alice Illingworth,  Laurence G. Roddick, 
  • Pages: 459-463
  • First Published: 09 April 2003
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Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error†

Shemin Zeng,  Shivanand R. Patil,  Jerome Yankowitz, 
  • Pages: 464-469
  • First Published: 18 June 2003
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Screening of patients with craniosynostosis: Molecular strategy

Kathy Chun,  Ahmad S. Teebi,  Cyrus Azimi,  Leslie Steele,  Peter N. Ray, 
  • Pages: 470-473
  • First Published: 17 July 2003
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Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease

Richard G. Boles,  Kathleen Adams,  Masamichi Ito,  B.U.K. Li, 
  • Pages: 474-482
  • First Published: 10 April 2003
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Characterization of terminal chromosome anomalies using multisubtelomere FISH

Angela F. Davies,  Toby L. Kirby,  Zoe Docherty,  Caroline Mackie Ogilvie, 
  • Pages: 483-489
  • First Published: 26 March 2003
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Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: Further delineation of the phenotype including 40 years follow-up†

A.K. Mostert,  P.F. Dijkstra,  B.R.H. Jansen,  J.R. van Horn,  B. de Graaf,  P. Heutink,  D. Lindhout, 
  • Pages: 490-497
  • First Published: 18 June 2003
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Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects

Gen Nishimura,  Rika Kizu,  Yoshimaro Kijima,  Kiyoshi Sakai,  Yoshiharu Kawaguchi,  Tomoatsu Kimura,  Isao Matsushita,  Shuya Shirahama,  Toshiyuki Ikeda,  Shiro Ikegawa,  Tomonobu Hasegawa, 
  • Pages: 498-502
  • First Published: 26 March 2003
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Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia

Klaus W. Kjaer,  Jean W. Keeling,  John M. Opitz,  Enid Gilbert-Barness,  Ulla Hartling,  Birgit Fischer Hansen,  Inger Kjær, 
  • Pages: 503-508
  • First Published: 16 June 2003
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X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3†

Agi K. Gedeon,  John Nelson,  Jozef Gécz,  John C. Mulley, 
  • Pages: 509-517
  • First Published: 09 April 2003

Clinical Reports

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Splenogonadal fusion-limb defect “syndrome” and associated malformations

Fiona McPherson,  Jaime L. Frias,  Diane Spicer,  John M. Opitz,  Enid F. Gilbert-Barness, 
  • Pages: 518-522
  • First Published: 25 June 2003
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D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses

Nigel F. Clarke,  Ian Andrews,  Kevin Carpenter,  Cornelis Jakobs,  Marjo S. van der Knaap,  Edwin P. Kirk, 
  • Pages: 523-527
  • First Published: 01 April 2003
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Abnormalities of the umbilico-portal venous system in Down syndrome: A report of two new patients

Salvatore Pipitone,  Caterina Garofalo,  Giovanni Corsello,  Maurizio Mongiovì,  Maria Piccione,  Emiliano Maresi,  Velio Sperandeo, 
  • Pages: 528-532
  • First Published: 11 March 2003
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Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]†

S. Sauter,  G. von Beust,  P. Burfeind,  A. Weise,  H. Starke,  T. Liehr,  B. Zoll, 
  • Pages: 533-536
  • First Published: 11 April 2003

Clinical Report

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Toriello–Carey syndrome associated with respiratory failure and non-mechanical ileus

Tatsuki R. Kataoka,  Akihiko Ito,  Tasuku Nakabori,  Yu-ichiro Koma,  Hiroshi Nakai,  Shinkichi Kamata,  Yukihiko Kitamura, 
  • Pages: 537-541
  • First Published: 26 March 2003

Clinical Reports

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Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1

Natasha Shur,  Janet Cowan,  Patricia G. Wheeler, 
  • Pages: 542-546
  • First Published: 11 March 2003

Clinical Report

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Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review

Susann Schweiger,  Rabih Chaoui,  Cornelia Tennstedt,  Katarina Lehmann,  Stefan Mundlos,  Sigrid Tinschert, 
  • Pages: 547-552
  • First Published: 26 March 2003

Clinical Reports

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Severely delayed epiphyseal ossification dysplasia with normal stature

Clarisse Baumann,  Catherine Garel,  Lucille Vuillemain,  Max Hassan,  Alain Verloes, 
  • Pages: 553-556
  • First Published: 12 June 2003
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Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X

Tomoko Ida,  Norio Miharu,  Michiko Hayashitani,  Osamu Shimokawa,  Naoki Harada,  Osamu Samura,  Takeo Kubota,  Norio Niikawa,  Dr. Naomichi Matsumoto, 
  • Pages: 557-561
  • First Published: 11 March 2003

Research Letters

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Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: Branchio-oto-renal syndrome or hemifacial microsomia with additional findings

Ferda Ozkinay,  Ozgur Cogulu,  Cihangir Ozkinay,  Sema Aydogdu,  Cumhur Gunduz,  Sukran Tacoy, 
  • Pages: 562-563
  • First Published: 03 June 2003
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On macrocephaly, epilepsy, autism, specific facial features, and mental retardation

Carlos Eduardo Steiner,  Marilisa Mantovani Guerreiro,  Antonia Paula Marques-de-Faria, 
  • Pages: 564-565
  • First Published: 11 February 2003
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Do genetic polymorphisms of serotonin (5-HT) neurotransmission influence function in humans?

P.L. Strickland,  S. John,  A. Payton,  J. Worthington,  W.E.R. Ollier,  J.F.W. Deakin, 
  • Pages: 566-567
  • First Published: 19 June 2003

Research Reviews

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Conjoined twins: Morphogenesis of the heart and a review

Enid Gilbert-Barness,  Diane Debich-Spicer,  John M. Opitz, 
  • Pages: 568-582
  • First Published: 16 July 2003
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Developmental anomalies of the scapula—the “omo”st forgotten bone

Marc S. Williams, 
  • Pages: 583-587
  • First Published: 26 March 2003

Book Reviews

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Book Review

Nicola Longo, 
  • Page: 588
  • First Published: 29 April 2003

Conference Reports

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Preempting genetic discrimination and assaults on privacy: Report of a symposium

Aileen Shinaman,  Lisa J. Bain,  Ira Shoulson, 
  • Pages: 589-593
  • First Published: 18 April 2003

Genetic Drift

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Prenatal diagnosis is for the DR, not just for the OR

Jeffrey C. Murray, 
  • Pages: 594-595
  • First Published: 11 March 2003

Correspondence

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Estimate of the prevalence of chromosome 15q11-q13 duplications

N. Simon Thomas,  S.E. Roberts,  C.E. Browne, 
  • Pages: 596-598
  • First Published: 16 July 2003