目的　分析临床罕见的47XXX/48XXX+8合并贝赫切特综合征患者的临床特征和诊断、治疗。方法　回顾1 例47XXX/48XXX+8合并贝赫切特综合征患者的临床资料，染色体核型分析及基因分析结果，并复习相关文献。结果　 患儿，女，11岁女性，反复发热6年余并伴有反复口腔溃疡及外阴溃疡，临床诊断为贝赫切特综合征；集合全基因芯片扫 描及外周血染色体核型分析结果，患儿染色体核型为为47，XXX[12]/48，XXX，+8[18]。结论　染色体核型分析与基因 分析在诊断疾病上有着相互补充的作用。 8号染色体上可能存在贝赫切特综合征相关致病基因的基因剂量增加效应。

　Objective　To investigate the characteristics and essential points of diagnosis and treatment of double trisomy 47，XXX/48，XXX，+8 combined Behcet disease, a rare inherited immunodeficiency disorder. Methods　The clinical manifestations, karyotype analysis and gene test results of the patients were analyzed, and relevant literatures were reviewed. Results　A 11-year-old girl presented repeated fever for more than 6 years, accompanied with recurrent genital herpes infection and oral apthosis, was clinically diagnosed with Behcet disease. Cytogentic and molecular karyotyping on peripheral lymphocytes demonstrated 47，XXX[12]/48，XXX，+8[18]. Conclusions　Conventional karyotype analysis and chromosomal microarray analysis have a complementary role in the diagnosis of the disease. We conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behcet disease. The mechanism may relate to increased gene dosage of candidate genes for  Behcet’s disease on chromosome 8.