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Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

Kotzot, Dieter ; Schmitt, Silke ; Bernasconi, Fabiana ; Robinson, Wendy P. ; Lurie, Iosif W. ; Ilyina, Helena ; Méhes, Károly ; Hamel, Ben C.J. ; Otten, Barto J. ; Hergersberg, Martin ; Werder, Edmond ; Schoenle, Eugen ; Schinzel, Albert

In: Human Molecular Genetics, 1995, vol. 4, no. 4, p. 583-587

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    Titre
    • Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation
    Auteur
    • Kotzot, Dieter. Institute of Medical Genetics, University of Zürich, Rä;mistr, 74, CH-8001, Zürich, Switzerland, Minsk, Belarus, Hungary, Nijmegen, The Netherlands, Nijmegen, The Netherlands
    • Schmitt, Silke. Department of Pediatrics, University of Zürich Zürich, Switzerland
    • Bernasconi, Fabiana. Institute of Medical Genetics, University of Zürich, Rä;mistr, 74, CH-8001, Zürich, Switzerland, Minsk, Belarus, Hungary, Nijmegen, The Netherlands, Nijmegen, The Netherlands
    • Robinson, Wendy P.. Institute of Medical Genetics, University of Zürich, Rä;mistr, 74, CH-8001, Zürich, Switzerland, Minsk, Belarus, Hungary, Nijmegen, The Netherlands, Nijmegen, The Netherlands
    • Lurie, Iosif W.. Institute for Hereditary Diseases Minsk, Belarus
    • Ilyina, Helena. Institute for Hereditary Diseases Minsk, Belarus
    • Méhes, Károly. Department of Pediatrics, University of Pécs Hungary
    • Hamel, Ben C.J.. Institute of Medical Genetics, University of Zürich, Rä;mistr, 74, CH-8001, Zürich, Switzerland, Minsk, Belarus, Hungary, Nijmegen, The Netherlands, Nijmegen, The Netherlands
    • Otten, Barto J.. Departments of Pediatrics, University Hospital Nijmegen Nijmegen, The Netherlands
    • Hergersberg, Martin. Institute of Medical Genetics, University of Zürich, Rä;mistr, 74, CH-8001, Zürich, Switzerland, Minsk, Belarus, Hungary, Nijmegen, The Netherlands, Nijmegen, The Netherlands
    • Werder, Edmond. Department of Pediatrics, University of Zürich Zürich, Switzerland
    • Schoenle, Eugen. Department of Pediatrics, University of Zürich Zürich, Switzerland
    • Schinzel, Albert. Institute of Medical Genetics, University of Zürich, Rä;mistr, 74, CH-8001, Zürich, Switzerland, Minsk, Belarus, Hungary, Nijmegen, The Netherlands, Nijmegen, The Netherlands
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • Human Molecular Genetics, 1995, vol. 4, no. 4, p. 583-587. Oxford University Press
    Autre version électronique
    Classification
    • Santé
    Mots clés
    Identifiant OAI-PMH
    • oai:doc.rero.ch:298192
    Summary
    Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one because he was homozygous for a rare COL1A2 mutation. We investigated 35 patients with either the Silver-Russell syndrome or primordial growth retardation and their parents with PCR markers to search for uniparental disomy 7. Four of 35 patients were found to have maternal disomy, including three with isodisomy and one with heterodisomy. The data confirm the hypothetical localization of a maternally imprinted gene (or more than one such gene) on chromosome 7. It is suggested to search for UPD 7 in families with an offspring with sporadic Silver-Russell syndrome or primordial growth retardation