Clinical Genetics

Cover image for Clinical Genetics

January 1993

Volume 43, Issue 1

Pages 1–56

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short communication
    5. Letter to the Editor
    6. Announcements
    1. Hemophilia B in a 46,XX female probably caused by non-random X inactivation (pages 1–4)

      Claes Wadelius, Monika Lindstedt, Maritta Pigg, Nils Egberg, Ulf Pettersson and Maria Anvret

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04415.x

    2. Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome (pages 5–8)

      A. Smith, L. Robson, A. Neumann, M. Mulcahy, V. Cbabros, Z.-M. Deng, T. Woodage and R. J. Trent

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04416.x

    3. Erythrocyte membrane cation carrier in Down syndrome (pages 9–10)

      Dr. G. J. Naylor, M. Semple and E. A. Irvine

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04417.x

    4. Guadalajara camptodactyly syndrome type I. A corroborative family (pages 11–15)

      L. E. Figuera, M. L. Ramírez-Dueñas, D. Garcia-Cruz, V. Villar and J. M. Cantú

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04418.x

    5. Characterization of a deleted Y chromosome in a male with Turner stigmata (pages 16–22)

      E. Calzolari, P. Patracchini, P. Palazzi, V. Aiello, A. Ferlini, G. Trasforini, E. Degll Uberti and F. Bernardi

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04419.x

    6. Familial occurrence of hereditary renal adysplasia with Müllerian anomalies (pages 23–24)

      Jacques Battin, Didier Lacombe and Jean-Joël Leng

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04420.x

    7. Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective (pages 25–27)

      To-Nga Dao, Jean Mathieu, Jean-Pierre Bouchard and Marc de Braekeleer

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04421.x

    8. A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p (pages 28–33)

      S. Uehara, Y. Akai, Y. Takeyama, K. Okamura, T. Takabayashi, A. Yajima, M. Natsui and H. Nakai

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04422.x

    9. Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families (pages 34–38)

      Tada-aki Hori, Masatake Yamauchi, Naohiko Seki, Satsuki Tsuji and Ikuko Kondo

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04423.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short communication
    5. Letter to the Editor
    6. Announcements
    1. A balanced autosomal translocation (3;9) associated with primary hypogonadism and dorsal spine stenosis (pages 44–45)

      P. J. Hughes, J. M. Rice Edwards, M. A. C. Ridler and R. J. M. Lane

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04425.x

    2. Trisomy 13 (Patau syndrome) with an 11-year survival (pages 46–50)

      B. Zoll, J. Wolf, D. Lensing-Hebben, M. Pruggmayer and B. Thorpe

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04426.x

  3. Short communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short communication
    5. Letter to the Editor
    6. Announcements
  4. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short communication
    5. Letter to the Editor
    6. Announcements
    1. Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome (pages 54–55)

      Bruno Dallapiccola, Rita Mingarelli, Cristina Digilio, Maria Gabriela Obregon and Aldo Giannotti

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04452.x

  5. Announcements

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short communication
    5. Letter to the Editor
    6. Announcements
    1. Announcements (page 56)

      Version of Record online: 10 AUG 2012 | DOI: 10.1111/j.1399-0004.1993.tb04453.x

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