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Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
K H Chrzanowska1, M Krajewska-Walasek, J Kuś
1Department of Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Clinical Genetics
|July 3, 1998
Abstract:
We report a case of a 19-year-old male with the cardinal features of the Kabuki syndrome (KS) and, in addition, with severe immunodeficiency. Finding immune deficiency in a KS patient, prompted us to determine whether this association was related to a deletion within the DiGeorge chromosomal region. Fluorescence in situ hybridization (FISH) with the Oncor probe N25(D22S75) revealed no deletion of 22q11.2 in the patient.