• Issue

    American Journal of Medical Genetics: Volume 40, Issue 3

    fmi, 255-386
    1 September 1991
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Masthead

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Masthead

  • Page: fmi
  • First Published: 1 September 1991

Articles

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Keratitis, hepatitis, ichthyosis, and deafness: Report and review of KID syndrome

Golder N. Wilson M.D., Ph.D.,  Robert H. Squires Jr.,  Arthur G. Weinberg, 
  • Pages: 255-259
  • First Published: 1 September 1991
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Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions

Shin-Ichiro Nishimura M.D.,  Hiroyuki Masuda,  Takahiko Matsumoto,  Nobuo Sakura,  Tomoaki Matsumoto,  Kazuhiro Ueda, 
  • Pages: 260-263
  • First Published: 1 September 1991
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Jarcho-Levin syndrome: Four new cases and classification of subtypes

Pamela S. Karnes,  Deborah Day,  Susan A. Berry,  Mary Ella M. Pierpont M.D., Ph.D., 
  • Pages: 264-270
  • First Published: 1 September 1991
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Clinico-pathological report: A 7-year old white-male boy with progressive neurological deterioration

Lewis A. Barness M.D.,  Keith Henry,  Pamela Kling,  Renata Laxova,  Michael Kaback,  Enid Gilbert-Barness, 
  • Pages: 271-279
  • First Published: 1 September 1991
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Partial duplication of Xp: A case report and review of previously reported cases

Herman E. Wyandt Ph.D.,  Lucille Bugeau-Michaud,  James C. Skare,  Aubrey Milunsky, 
  • Pages: 280-283
  • First Published: 1 September 1991
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Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence

Dr. José Ignacio Rodríguez,  José Palacios, 
  • Pages: 284-289
  • First Published: 1 September 1991
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Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance

Joe J. Hoo M.D.,  Kathleen Kapp-Simon,  Beverly Rollnick,  Margaret Chao, 
  • Pages: 290-293
  • First Published: 1 September 1991
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Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease

Helen L. Grierson,  James Skare,  John Hawk,  Mary Pauza,  David T. Purtilo M.D., 
  • Pages: 294-297
  • First Published: 1 September 1991
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Characteristics of the postcounseling reproductive decision-making process: An explorative study

Petra G. Frets,  Frans Verhage,  Martinus F. Niermeijer, 
  • Pages: 298-303
  • First Published: 1 September 1991

Brief Clinical Reports

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Spondylo-metaphyseal dysplasia Algerian type: Confirmation of a new syndrome

M. Rybak,  T. P. Foley,  Dr. K. Kozlowski, 
  • Pages: 304-306
  • First Published: 1 September 1991
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Baller-Gerold syndrome associated with congenital hydrocephalus

M. E. Suzanne Lewis,  Peter L. Rosenbaum,  Dr. Bosco A. Paes, 
  • Pages: 307-310
  • First Published: 1 September 1991

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Animal models: Prenatal diagnosis of Chediak-Higashi syndrome in the cat by evaluation of cultured chorionic cells

M. Müfit Kahraman,  David J. Prieur DVM, PhD, 
  • Pages: 311-315
  • First Published: 1 September 1991

Brief Clinical Reports

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Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome

Rena Petrella,  Kurt Hirschhorn M.D.,  James German, 
  • Pages: 316-318
  • First Published: 1 September 1991

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Adams-Oliver syndrome revisited

Chester B. Whitley Ph.D., M.D.,  Robert J. Gorlin, 
  • Pages: 319-326
  • First Published: 1 September 1991

Brief Clinical Reports

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Variable expression of vision in sibs with albinism

C. Gail Summers M.D.,  Donnell Creel,  Dewayne Townsend,  Richard A. King, 
  • Pages: 327-331
  • First Published: 1 September 1991

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Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: Support for X-linked inheritance and paternal X chromosome mosaicism

Jerome L. Gorski M.D., 
  • Pages: 332-337
  • First Published: 1 September 1991

Brief Clinical Reports

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Frontofacionasal dysplasia

Evelyn W. White,  Ramon Figueroa,  David B. Flannery M.D., 
  • Pages: 338-340
  • First Published: 1 September 1991

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Cataracts, aberrant oral frenula, and growth retardation: A new autosomal dominant syndrome

Dr. Diana Wellesley,  Paul Carman,  Noel French,  Jack Goldblatt, 
  • Pages: 341-342
  • First Published: 1 September 1991

Brief Clinical Reports

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Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))

J. P. Fryns,  J. Bulcke,  P. Verdu,  H. Carton,  A. Kleczkowska,  H. van den Berghe, 
  • Pages: 343-344
  • First Published: 1 September 1991

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Balanced reciprocal translocation mosaicism: New cases and a literature review

Dr. S. A. Farrell, 
  • Pages: 345-347
  • First Published: 1 September 1991
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Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and α-L-fucosidase 2

Kouji Narahara M.D.,  Kazushiro Tsuji,  Yuji Yokoyama,  Hiroshi Namba,  Masae Murakami,  Tsunenori Matsubara,  Ryozo Kasai,  Yoshimitsu Fukushima,  Takashi Seki,  Keiko Wakui,  Yoshiki Seino, 
  • Pages: 348-353
  • First Published: 1 September 1991
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Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

James R. Lupski M.D., Ph.D.,  Carlos A. Garcia,  Huda Y. Zoghbi,  Eric P. Hoffman,  Raymond G. Fenwick, 
  • Pages: 354-364
  • First Published: 1 September 1991
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Reduced activity of arylsulfatase A and predisposition to neurological disorders: Analysis of 140 pediatric patients

Simonetta Sangiorgi,  Alessandra Ferlini,  Adele Zanetti,  Mirella Mochi, 
  • Pages: 365-369
  • First Published: 1 September 1991
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Balanced complex chromosomal rearrangements with more than four breakpoints: Report of a new case

Marianne Till,  Françoise Devillard,  Pierre Crost,  Monique Bachy,  Fabienne Prieur,  Marie-Françoise Berthéas, 
  • Pages: 370-373
  • First Published: 1 September 1991
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Non-random association between DNA markers and Huntington disease locus in the Italian population

Andrea Novelletto,  Paola Mandich,  Emilia Bellone,  Patrizia Malaspina,  Giuseppa Vivona,  Franco Ajmar,  Marina Frontali, 
  • Pages: 374-376
  • First Published: 1 September 1991
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Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: A new autosomal recessive syndrome or a variant of Fraser syndrome?

Wahib Mena M.D.,  Natalie Krassikoff,  Joseph B. Philips III, 
  • Pages: 377-382
  • First Published: 1 September 1991
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DNA analysis in patients with lissencephaly type I and other cortical dysplasias

B. A. Oostra,  J. F. de Rijk-van Andel,  H. J. Eussen,  J. O. van Hemel,  D. J. J. Halley,  M. F. Niermeijer, 
  • Pages: 383-386
  • First Published: 1 September 1991