与免疫缺陷相关的歌舞伎（新川-黑木）综合征。
Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.
作者信息
Chrzanowska K H, Krajewska-Walasek M, Kuś J, Michałkiewicz J, Maziarka D, Wolski J K, Brecevic L, Madaliński K
机构信息
Department of Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
出版信息
Clin Genet. 1998 Apr;53(4):308-12. doi: 10.1111/j.1399-0004.1998.tb02702.x.
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.
我们报告了一例19岁男性患者，具有歌舞伎综合征（KS）的主要特征，此外还伴有严重免疫缺陷。在一名KS患者中发现免疫缺陷，促使我们确定这种关联是否与22号染色体长臂1区2带（22q11.2）缺失有关。使用Oncor探针N25（D22S75）进行荧光原位杂交（FISH）检测，结果显示该患者不存在22q11.2缺失。
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