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Physical mapping of the holoprosencephaly critical region on chromosome 7q36

Nature Genetics volume 3, pages 247–251 (1993)Cite this article

Abstract

Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical map of 7q32–qter. As a first step towards cloning an HPE gene crucial for normal brain development, we have defined the HPE minimal critical region in 7q36 between D7S292 and D7S392.

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Author information

Author notes

  1. Barbara J. Trask & Ger van den Engh

    Present address: Department of Molecular Biotechnology, University of Washington School of Medicine, Seattle, Washington, 98195, USA

Authors and Affiliations

  1. The Children's Hospital of Philadelphia and Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA

    Fiorella Gurrieri & Maximilian Muenke

  2. Biomedical Sciences Division, Lawrence Livermore National Laboratory, Livermore, California, 94550, USA

    Barbara J. Trask & Ger van den Engh

  3. Harvard Community Health Plan, Boston, Massachusetts, 02116, USA

    Celeste M. Krauss

  4. Institut für Medizinische Genetik, Zürich, Switzerland

    Albert Schinzel

  5. Department of Pediatrics, Division of Medical Genetics, Bowman-Gray School of Medicine, Winston Salem, North Carolina, 27103, USA

    Mark J. Pettenati

  6. Institut für Humangenetik, Würzburg, Germany, Gaitersburg, Maryland, 20884

    Detlef Schindler

  7. Oncor, Inc., Gaitersburg, Maryland, 20884

    Jeanne Dietz-Band

  8. Centre d'Etudes du Bouchet, 91710, Vert le Petit, France

    Gilles Vergnaud

  9. Department of Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8

    Stephen W. Scherer & Lap-Chee Tsui

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  1. Fiorella Gurrieri
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Gurrieri, F., Trask, B., van den Engh, G. et al. Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet 3, 247–251 (1993). https://doi.org/10.1038/ng0393-247

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  • DOI: https://doi.org/10.1038/ng0393-247

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