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Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome
A Dufke1, J Seidel, M Schöning
1Division of Medical Genetics, University of Tübingen, Tübingen, Germany. andreas.dufke@uni-tuebingen.de
Cytogenetics and Cell Genetics
|February 15, 2001
Abstract:
Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS.