PMID- 9650771
OWN - NLM
STAT- MEDLINE
DCOM- 19980921
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 53
IP  - 4
DP  - 1998 Apr
TI  - Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.
PG  - 308-12
AB  - 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.
FAU - Chrzanowska, K H
AU  - Chrzanowska KH
AD  - Department of Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
FAU - Krajewska-Walasek, M
AU  - Krajewska-Walasek M
FAU - Kus, J
AU  - Kus J
FAU - Michalkiewicz, J
AU  - Michalkiewicz J
FAU - Maziarka, D
AU  - Maziarka D
FAU - Wolski, J K
AU  - Wolski JK
FAU - Brecevic, L
AU  - Brecevic L
FAU - Madalinski, K
AU  - Madalinski K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adult
MH  - Cells, Cultured
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Craniofacial Abnormalities/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Severe Combined Immunodeficiency/*complications/genetics
MH  - Syndrome
MH  - T-Lymphocytes/drug effects/immunology
EDAT- 1998/07/03 00:00
MHDA- 1998/07/03 00:01
CRDT- 1998/07/03 00:00
PHST- 1998/07/03 00:00 [pubmed]
PHST- 1998/07/03 00:01 [medline]
PHST- 1998/07/03 00:00 [entrez]
AID - 10.1111/j.1399-0004.1998.tb02702.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 Apr;53(4):308-12. doi: 10.1111/j.1399-0004.1998.tb02702.x.