Array CGH has led to the delineation of innumerable microdeletion syndromes. We present a patient with a 7-Mb deletion at 5q11.2 with previously unreported features, such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. The clinical features of this patient are compared with 13 patients reported previously. A common critical region (CCR) of 1.4 Mb (54-55.4 Mb) is defined in all cases including the present one. Of the 14 genes present in CCR, IL6ST is proposed to be the candidate gene for immunodeficiency observed in some of these patients. IL6ST encodes gp130, a signal transduction protein for various interleukins and cytokines. It is involved in the generation of both T and B lymphocytes as well as the production of acute-phase reactants. Microdeletion 5q11.2 should be considered as a recognisable syndrome based on the common phenotype and the novel features described.

中文翻译：

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扩展表型和鉴定5q11微缺失综合征免疫缺陷的新候选基因。

阵列CGH导致了无数微缺失综合征的描述。我们为患者提供了一个在5q11.2处7-Mb缺失的患者，该患者先前未报告过的特征，例如免疫缺陷，手脚不对称，关节松弛和call体发育不全。将该患者的临床特征与之前报道的13例患者进行了比较。在包括当前情况在内的所有情况下，都定义了1.4 Mb（54-55.4 Mb）的公共临界区（CCR）。在CCR中存在的14个基因中，IL6ST被认为是其中一些患者中观察到的免疫缺陷的候选基因。IL6ST编码gp130，gp130是各种白介素和细胞因子的信号转导蛋白。它参与T和B淋巴细胞的产生以及急性期反应物的产生。微删除5q11。