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Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency


Chrzanowska, Krystyna h; Krajewska-Walasek, Malgorzata; Kuś, J; Michalkdewicz, J; Maziarka, D; Wolski, JK; Brecevic, Lukrecija; Madaliński, K (1998). Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clinical Genetics, 53(4):308-312.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, chromosome 22q11.2 deletion, immunodeficiency, Kabuki syndrome, Niikawa-Kuroki syndrome
Language:English
Date:April 1998
Deposited On:22 Jun 2023 13:29
Last Modified:29 Apr 2024 01:38
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0009-9163
OA Status:Closed
Publisher DOI:https://doi.org/10.1111/j.1399-0004.1998.tb02702.x
PubMed ID:9650771