KABUKI (NIIKAWA-KUROKI) SYNDROME-ASSOCIATED WITH IMMUNODEFICIENCY

Authors
CHRZANOWSKA KH KRAJEWSKAWALASEK M KUS J MICHALKIEWICZ J MAZIARKA D WOLSKI JK BRECEVIC L MADALINSKI K
Citation
Kh. Chrzanowska et al., KABUKI (NIIKAWA-KUROKI) SYNDROME-ASSOCIATED WITH IMMUNODEFICIENCY, Clinical genetics, 53(4), 1998, pp. 308-312
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
53
Issue
4
Year of publication
1998
Pages
308 - 312
Database
ISI
SICI code
0009-9163(1998)53:4<308:K(SWI>2.0.ZU;2-N
Abstract
We report a case of a 19-year-old male with the cardinal features of t he 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 th e Oncor probe N25(D22S75) revealed no deletion of 22q11.2 in the patie nt.