47,XXX/48,XXX,+8合并贝赫切特综合征1例报告及文献复习

A rare double trisomy 47,XXX/48,XXX,+8 combined Behcet disease :A case report and review of literature

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 doubletrisomy47,XXX/48,XXX,+8combined Behcet disease,a rare inherited immunodeficiency disorder.Methods The clinicalmanifestations,karyotype analysis and gene test results of the patients were analyzed,and relevant literatures were reviewed.Results A11-year-old girl presented repeated fever for more than6years,accompanied with recurrent genital herpesinfection and oral apthosis,was clinically diagnosed with Behcet disease.Cytogentic and molecular karyotyping on peripherallymphocytes demonstrated47,XXX[12]/48,XXX,+8[18].Conclusions Conventional karyotype analysis and chromosomalmicroarray analysis have a complementary role in the diagnosis of the disease.We conclude that patients with constitutionaltrisomy8and those with trisomy8confined to the bone marrow are both at increased risk of developing features of Behcetdisease.The mechanism may relate to increased gene dosage of candidate genes for Behcet’s disease on chromosome8