• Issue

    American Journal of Medical Genetics Part A: Volume 143A, Issue 18

    2085-2219
    15 September 2007
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New Syndrome

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Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?†

David J. Coman,  Susan M. White,  David J. Amor, 
  • Pages: 2085-2088
  • First Published: 17 August 2007

Research Articles

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Parenting children with Proteus syndrome: Experiences with, and adaptation to, courtesy stigma†‡

Joyce Turner,  Barbara Biesecker,  Jennifer Leib,  Leslie Biesecker,  Kathryn F. Peters, 
  • Pages: 2089-2097
  • First Published: 17 August 2007
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Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites†

Rachel Saunders-Pullman,  Deborah Raymond,  Geetha Senthil,  Patricia Kramer,  Erin Ohmann,  Amanda Deligtisch,  Vicki Shanker,  Paul Greene,  Rowena Tabamo,  Neng Huang,  Michele Tagliati,  Patricia Kavanagh,  Jeannie Soto-Valencia,  Patricia de Carvalho Aguiar,  Neil Risch,  Laurie Ozelius,  Susan Bressman, 
  • Pages: 2098-2105
  • First Published: 17 August 2007
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Diaphragmatic defects and limb deficiencies—Taking sides†

Jane A. Evans, 
  • Pages: 2106-2112
  • First Published: 17 August 2007
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Growth hormone analysis and treatment in Ellis–van Creveld syndrome†

Florens G.A. Versteegh,  Sannine A. Buma,  Gertrude Costin,  Wilfried C. de Jong,  Raoul C.M. Hennekam,  EvC Working Party , 
  • Pages: 2113-2121
  • First Published: 17 August 2007

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Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review†

Kim Keppler-Noreuil,  Sue Gorton,  Florence Foo,  Jerome Yankowitz,  Catherine Keegan, 
  • Pages: 2122-2128
  • First Published: 17 August 2007
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Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)†

Cedric H.L. Shackleton,  Josep Marcos,  Glenn E. Palomaki,  Wendy Y. Craig,  Richard I. Kelley,  Lisa E. Kratz,  James E. Haddow, 
  • Pages: 2129-2136
  • First Published: 17 August 2007
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Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation†

Sarah T. South,  Steven B. Bleyl,  John C. Carey, 
  • Pages: 2137-2142
  • First Published: 17 August 2007
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Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review†

Helena Malmgren,  Sigrid Sahlén,  Katarina Wide,  Mikael Lundvall,  Elisabeth Blennow, 
  • Pages: 2143-2149
  • First Published: 17 August 2007
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Prevalence of encephalocele in Texas, 1999–2002†

Shu Wen,  Mary Ethen,  Peter H. Langlois,  Laura E. Mitchell, 
  • Pages: 2150-2155
  • First Published: 17 August 2007

Clinical Reports

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Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes†

Ener Cagri Dinleyici,  Neslihan Tekin,  Meltem Dinleyici,  Zubeyir Kilic,  Baki Adapinar,  M. Arif Aksit, 
  • Pages: 2156-2159
  • First Published: 17 August 2007
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A microduplication of CBP in a patient with mental retardation and a congenital heart defect†

Bernard Thienpont,  Jeroen Breckpot,  Maureen Holvoet,  Joris R. Vermeesch,  Koen Devriendt, 
  • Pages: 2160-2164
  • First Published: 17 August 2007
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Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14†

Joerg Mattes,  Bruce Whitehead,  Thomas Liehr,  Ian Wilkinson,  John Bear,  Kerry Fagan,  Paul Craven,  Bruce Bennetts,  Matthew Edwards, 
  • Pages: 2165-2171
  • First Published: 17 August 2007
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Zellweger syndrome resulting from maternal isodisomy of chromosome 1†

Claire L.S. Turner,  David J. Bunyan,  N. Simon Thomas,  Deborah J.G. Mackay,  Huw P. Jones,  Hans R. Waterham,  Ronald J.A. Wanders,  I. Karen Temple, 
  • Pages: 2172-2177
  • First Published: 17 August 2007
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A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene†

Fady M. Mikhail,  Maria Descartes,  Arkadiusz Piotrowski,  Robin Andersson,  Teresita Diaz de Ståhl,  Jan Komorowski,  Carl E.G. Bruder,  Jan P. Dumanski,  Andrew J. Carroll, 
  • Pages: 2178-2184
  • First Published: 17 August 2007

Research Letters

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Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS)†

René Kaiser,  Elena Guillén Posteguillo,  Dietmar Müller,  Walter Just, 
  • Pages: 2185-2188
  • First Published: 17 August 2007
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Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay†

Angela F. Davies,  Caroline Mackie Ogilvie, 
  • Pages: 2189-2191
  • First Published: 17 August 2007
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18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis†

H. Marical,  M.J. Le Bris,  N. Douet-Guilbert,  P. Parent,  J.P. Descourt,  F. Morel,  M. De Braekeleer, 
  • Pages: 2192-2195
  • First Published: 17 August 2007
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Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene†

Dagmara Kabzińska,  Teresa Korwin-Piotrowska,  Hanna Drechsler,  Hanna Drac,  Irena Hausmanowa-Petrusewicz,  Andrzej Kochański, 
  • Pages: 2196-2199
  • First Published: 17 August 2007
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Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases†

Daniela Giardino,  Emanuele Valtorta,  Gabriella De Canal,  Cecilia Corti,  Chiara Valtorta,  Palma Finelli,  Concetta Vardè,  Maria Iandolo,  Cristiana Marchese,  Lidia Larizza, 
  • Pages: 2200-2203
  • First Published: 17 August 2007

Research Reviews

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Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature†

M. Klaassens,  R.J.H. Galjaard,  D.A. Scott,  H.T. Brüggenwirth,  D. van Opstal,  M.V. Fox,  R.R. Higgins,  T.E. Cohen-Overbeek,  E.M. Schoonderwaldt,  B. Lee,  D. Tibboel,  A. de Klein, 
  • Pages: 2204-2212
  • First Published: 17 August 2007

Book Reviews

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Diagnostic imaging: Obstetrics. Written by: Woodward PJ, Kennedy A, Sohaey R, Byrne JLB, Oh KY, Puchalski MD. Published by: Amirsys/Elsevier, Salt Lake City, UT. ISBN: 1-4160-2335-6.†

John M. Opitz, 
  • Pages: 2213-2214
  • First Published: 17 August 2007

Correspondence

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Ehlers–Danlos syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies†

N.C. Voermans,  G.J. Jenniskens,  B.C. Hamel,  J. Schalkwijk,  P. Guicheney,  B.G. van Engelen, 
  • Pages: 2215-2219
  • First Published: 17 August 2007