• Issue

    American Journal of Medical Genetics: Volume 70, Issue 4

    341-454
    27 June 1997
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Dermatoglyphics in patients with Cenani-Lenz type syndactyly: Studies in a new case

Nursel Elçioglu,  Metin Atasu,  Asim Cenani, 
  • Pages: 341-345
  • First Published: 06 December 1998
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Consanguinity and common adult diseases in Israeli Arab communities

L. Jaber,  T. Shohat,  J. I. Rotter,  M. Shohat, 
  • Pages: 346-348
  • First Published: 06 December 1998
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Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

M. J. A. Amar,  R. Sutphen,  B. G. Kousseff, 
  • Pages: 349-352
  • First Published: 06 December 1998
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Say syndrome: A new case with cystic renal dysplasia in discordant monozygotic twins

Patricia Ashton-Prolla,  Têmis Maria Félix, 
  • Pages: 353-356
  • First Published: 06 December 1998
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Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes

S-A. Byatt,  E. Baker,  R. I. Richards,  C. Roberts,  A. Smith, 
  • Pages: 357-360
  • First Published: 06 December 1998
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Del(10)(q22.3q24.1) associated with juvenile polyposis

Russell F. Jacoby,  Steven Schlack,  Gurbax Sekhon,  Renata Laxova, 
  • Pages: 361-364
  • First Published: 06 December 1998
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Long-term impact of Huntington disease linkage testing

Catherine A. Taylor,  Richard H. Myers, 
  • Pages: 365-370
  • First Published: 06 December 1998
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A small deletion of 16q23.1→16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348−, P5432+)] in a boy with iris coloboma and minor anomalies

Walter Werner,  Sabine Kraft,  David F. Callen,  Oliver Bartsch,  Georg Klaus Hinkel, 
  • Pages: 371-376
  • First Published: 06 December 1998
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New insights into the phenotypes of 6q deletions

R. J. Hopkin,  E. Schorry,  M. Bofinger,  A. Milatovich,  H. J. Stern,  C. Jayne,  H. M. Saal, 
  • Pages: 377-386
  • First Published: 06 December 1998
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Maternal uniparental heterodisomy for chromosome 16: Case report

V. Woo,  P. J. Bridge,  J. S. Bamforth, 
  • Pages: 387-390
  • First Published: 06 December 1998
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Pulmonary agenesis: A predictor of ipsilateral malformations

Michael L. Cunningham,  Nancy Mann, 
  • Pages: 391-398
  • First Published: 06 December 1998
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Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22

Hana Aviv,  Caroline Lieber,  Aswani Yenamandra,  Franklin Desposito, 
  • Pages: 399-403
  • First Published: 06 December 1998
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“De novo” duplication Xq23→Xq26 of paternal origin in a girl with a mildly affected phenotype

Jaime Garcia-Heras,  Judith A. Martin,  Donald W. Day,  Peter Scacheri,  Selma F. Witchel, 
  • Pages: 404-408
  • First Published: 06 December 1998
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Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

Erica A. Eugster,  Susan A. Berry,  Betsy Hirsch, 
  • Pages: 409-412
  • First Published: 06 December 1998

Brief Clinical Reports

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XX-agonadism in a fetus with multiple dysraphic lesions: A new syndrome

Ingo Kennerknecht,  Torsten Mattfeldt,  Wolfgang Paulus,  Christian Nitsch,  Giovanni Negri,  Gotthold Barbi,  Walter Just,  Sabine Schwemmle,  Walther Vogel, 
  • Pages: 413-414
  • First Published: 06 December 1998
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Manifestations in institutionalised adults with Angelman syndrome due to deletion

Tls Sandanam,  Helen Beange,  Lisa Robson,  Helen Woolnough,  Tina Buchholz,  Arabella Smith, 
  • Pages: 415-420
  • First Published: 06 December 1998
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Pattern of malformations in the axial skeleton in human trisomy 13 fetuses

Inger Kjær,  Jean W. Keeling,  Birgit Fischer Hansen, 
  • Pages: 421-426
  • First Published: 06 December 1998
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Long-term survival in typical thanatophoric dysplasia type 1

Kristin M. Baker,  David S. Olson,  Cary O. Harding,  Richard M. Pauli, 
  • Pages: 427-436
  • First Published: 06 December 1998
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Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

Bru Cormand,  Daniel Grinberg,  Laura Gort,  Agata Fiumara,  Rita Barone,  Lluïsa Vilageliu,  Amparo Chabás, 
  • Pages: 437-443
  • First Published: 06 December 1998
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The Dutch uniform multicenter registration system for genetic disorders and malformation syndromes

A. Monic N. Zwamborn-Hanssen,  Jan B. Bijlsma,  Eric F. A. M. Hennekam,  Dick Lindhout,  Frits A. Beemer,  Egbert Bakker,  Wim J. Kleijer,  Henny F. de France,  Christine E. M. de Die-Smulders,  Martinus Duran,  Albert H. van Gennip,  J. Theo van Mens,  Peter L. Pearson,  Gerrit Mantel,  Rob E. Verhage,  Joep P. M. Geraedts, 
  • Pages: 444-447
  • First Published: 06 December 1998

Letters to the Editor

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Detection of CAG repeats using silver staining in patients with Huntington disease in Hungary

Tamás Tóth,  Margit Németi,  Zoltán Papp, 
  • Pages: 448-449
  • First Published: 06 December 1998
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Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus

Susan Hassed,  Kris Shewmake,  Charles Teo,  Mary Curtis,  Christopher Cunniff, 
  • Pages: 450-453
  • First Published: 06 December 1998
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Not a new Seckel-like syndrome but ear-patella-short stature syndrome

Ahmad S. Teebi,  Robert J. Gorlin, 
  • Page: 454
  • First Published: 06 December 1998