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

VernacularTitle:47,XXX/48,XXX,+8合并贝赫切特综合征1例报告及文献复习
Author: Xin LI ; Qing CHENG ; Yu DING ; Juan LI ; Lei YING ; Yunfang ZHOU ; Xiuming WANG ; Jian WANG
Keywords: double trisomy; trisomy 8; Behcet disease
From: Journal of Clinical Pediatrics 2017;35(5):355-358
CountryChina
Language:Chinese
Abstract: 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.