Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.

TitleKabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.
Publication TypeJournal Article
Year of Publication1998
AuthorsChrzanowska KH, Krajewska-Walasek M, Kuś J, Michałkiewicz J, Maziarka D, Wolski JK, Brecevic L, Madaliński K
JournalClinical genetics
Date Published1998 Apr

We report a case of a 19-year-old male with the cardinali 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.

Alternate JournalClin. Genet.
Citation Key9650771