• Issue

    American Journal of Medical Genetics: Volume 66, Issue 3

    fmi, 247-372
    18 December 1996
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Masthead

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Masthead

  • Page: fmi
  • First Published: 18 December 1996

Genetic Drifts

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The Christmas present

Robert W. Marion, 
  • Pages: 247-249
  • First Published: 18 December 1996
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Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations

J. Britt Ravnan,  Emily Chen,  Mahin Golabi,  Roger V. Lebo, 
  • Pages: 250-256
  • First Published: 18 December 1996
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Total anonychia congenita and microcephaly with normal intelligence: A new autosomal-recessive syndrome?

Ahmad S. Teebi,  Pardeep Kaurah, 
  • Pages: 257-260
  • First Published: 18 December 1996
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Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family

Makia J. Marafie,  Samia A. Temtamy,  Usha Rajaram,  Sadika A. Al-Awadi,  M.H. El-Badramany,  Talaat I. Farag, 
  • Pages: 261-264
  • First Published: 18 December 1996
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Autosomal recessive severe dwarfism in a Sicilian girl: A new form of osteodysplastic primordial dwarfism?

Giovanni Corsello,  Achille Albanese,  Maria Piccione,  Mario Giuffrè,  John M. Opitz, 
  • Pages: 265-268
  • First Published: 18 December 1996
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Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline Crachami

B. Boscherini,  F. Colabucci,  C. Galasso,  G. Marietti,  M. Cappa,  A.M. Pasquino, 
  • Pages: 269-272
  • First Published: 18 December 1996
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Distichiasis-lymphedema syndrome: Tetralogy of Fallot, chylothorax, and neonatal death

Emily Chen,  Susan K. Larabell,  Jamilyn M. Daniels,  Stanley Goldstein, 
  • Pages: 273-275
  • First Published: 18 December 1996
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Familial ring (19) chromosome mosaicism: Case report and review

Wendy L. Flejter,  Dana Finlinson,  Susan Root,  Wayne Nguyen,  Arthur R. Brothman,  David Viskochil, 
  • Pages: 276-280
  • First Published: 18 December 1996
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Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease

R.L. Alford,  T. Ashizawa,  J. Jankovic,  C.T. Caskey,  C.S. Richards, 
  • Pages: 281-286
  • First Published: 18 December 1996
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Reduced stereoacuity in Williams syndrome

Laurie S. Sadler,  Scott E. Olitsky,  James D. Reynolds, 
  • Pages: 287-288
  • First Published: 18 December 1996
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Clinicopathologic findings in congenital aneurysms of the great vessels

Lesley C. Adès,  William B. Knight,  Roger W. Byard,  John F. Bateman,  J. Anthony Desouza Esquivel,  Roger B.B. Mee,  Eric A. Haan,  Dianna M. Milewicz, 
  • Pages: 289-299
  • First Published: 18 December 1996

Brief Clinical Reports

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The Floating Harbor syndrome with cardiac septal defect

Noam Lazebnik,  Elizabeth McPherson,  Laura J. Rittmeyer,  John J. Mulvihill, 
  • Pages: 300-302
  • First Published: 18 December 1996
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Multigeneration maternal transmission in Italian families with neural tube defects

Julianne Byrne,  Armando Cama,  Marie Reilly,  Mariantonietta Vigliarolo,  Laura Levato,  Luca Boni,  Natale Lavia,  Luciano Andreussi, 
  • Pages: 303-310
  • First Published: 18 December 1996
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Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

Mary J. Ahrens,  Susan A. Berry,  Chester B. Whitley,  Dorothy J. Markowitz,  Robert J. Plante,  Mendel Tuchman, 
  • Pages: 311-315
  • First Published: 18 December 1996
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55-Base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles

N. Tayebi,  H. Stern,  I. Dymarskaia,  J. Herman,  E. Sidransky, 
  • Pages: 316-319
  • First Published: 18 December 1996
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Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968–1992

Sonja A. Rasmussen,  Cynthia A. Moore,  Muin J. Khoury,  José F. Cordero, 
  • Pages: 320-333
  • First Published: 18 December 1996
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Genetic disorders in portraits

Alan E.H. Emery, 
  • Pages: 334-339
  • First Published: 18 December 1996

Brief Clinical Reports

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Brief clinical report sperm acrosome defects in a patient with Aarskog-Scott syndrome

Dieter Meschede,  Claus Rolf,  Dorothea-Ch. Neugebauer,  Jürgen Horst,  Eberhard Nieschlag, 
  • Pages: 340-342
  • First Published: 18 December 1996
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Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia

Elif Gül Yapar,  Eyüp Ekici,  Tug¯rul Aydog¯du,  Erhan Senses,  Oya Gökmen, 
  • Pages: 343-346
  • First Published: 18 December 1996
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Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association

Michel Bahuau,  Wayne Flintoff,  Brigitte Assouline,  Stanislas Lyonnet,  Martine Le Merrer,  Marguerite Prieur,  Michel Guilloud-Bataille,  Nicole Feingold,  Arnold Munnich,  Michel Vidaud,  Dominique Vidaud, 
  • Pages: 347-355
  • First Published: 18 December 1996
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Angelman syndrome in adulthood

Laura A.E.M. Laan,  Annemieke Th. den Boer,  Raoul C.M. Hennekam,  Willy O. Renier,  Oebele F. Brouwer, 
  • Pages: 356-360
  • First Published: 18 December 1996

Letters to the Editor

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Increased rate of routine second newborn screen in Washington state

Robert M. Fineman,  Michael W. Glass,  Sheila S. Neier, 
  • Pages: 361-362
  • First Published: 18 December 1996
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Natural family planning and Down syndrome—matching and confounding in a case control study

Jörg Pelz, 
  • Page: 363
  • First Published: 18 December 1996
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Clarification of ECLAMC/NFP case control study

Eduardo E. Castilla,  Joe Leigh Simpson,  John T. Queenan, 
  • Page: 364
  • First Published: 18 December 1996
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Down syndrome and natural family planning

William H. James, 
  • Page: 365
  • First Published: 18 December 1996
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Down syndrome and natural family planning

Eduardo E. Castilla,  Joe Leigh Simpson,  John T. Queenan, 
  • Page: 366
  • First Published: 18 December 1996
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Medulloblastoma in patient with Rubinstein-Taybi syndrome

Gale J. Skousen,  Terrance Wardinsky,  Peter Chenaille, 
  • Page: 367
  • First Published: 18 December 1996
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Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome

Margherita Silengo,  Margherita Lerone,  Marco Seri,  Giovanni Romeo, 
  • Page: 368
  • First Published: 18 December 1996

Book Reviews

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Genethics: Technological intervention in human reproduction as a philosophical problem

Margaret W. Thompson, 
  • Page: 369
  • First Published: 18 December 1996
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Color atlas of genetics

Margaret W. Thompson, 
  • Page: 370
  • First Published: 18 December 1996

Books Received

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Books received

  • Pages: 371-372
  • First Published: 18 December 1996