Objective To enhance the understanding of clinical characteristics,diagnosis,follow-up and genetic testing of chromosome 16p11. 2 deletion syndrome. Methods The clinical manifestations,laboratory testing,diagnosis,follow-up,and genetic testing of one case with chromosome 16p11. 2 deletion syndrome were reviewed,analyzed and summarized. Meanwhile,relevant literatures of chromosome 16p11. 2 deletion syndrome were reviewed in this article. Results ①A 2-month-and-13-day boy with 20-day fever,cough,and diarrhea was admitted to our hospital. Deformity of six fingers in right palm and scoliosis was found. The total peripheral blood lymphocytes and lymphocyte subsets were lower than the reference levels. Chest X-ray indicated that the sternum shape was abnormal and T9-T12 vertebral bodies were hemivertebrae deformity. The patient was improved with a hyperactive and exciting performance after anti-infection therapy. Follow up after releasing indicated that the count of peripheral blood lymphocytes was improved,however,WBC,N and CD4+ T cells remained low levels. The boy was diagnosed as epilepsy at 5 months old and improved after treatment with anti-epileptic drugs. A deletion of 0. 545 4 Mb in chromosome 16p11. 2 was identified by chromosome chip detection technology and confirmed by high-density oligonucleotide comparative genomic hybridization( CGH)Microarray. The genes located in this deleted region included SPN,QRRT,Cl6orf54,KIF22,MAZ,SEZ6L2,CDIPT,ASPHDl,KCTDl3, TMEM2l9,TAOK2,DOC2A,TBX6. The results of Chromosome chip detection were normal in his parents. Thus,this boy was finally diagnosed as chromosome 16p11. 2 deletion syndrome. ②1 387cases were reported by 95 published articles related with chromosome 16p11. 2 deletion syndrome,involving the nervous system(547,39. 7%),endocrine system(371,26. 9%),growth and skeletal abnormalities(84,6. 1%),urinary and digestive system(10,0. 7%),cardiovascular system(4,0. 3%),immune function(1,0. 07%). The different size of the deletion region in chromosome 16p11. 2 led a high heterogeneity of clinical characteristics. Conclusion Chromosome 16p11. 2 deletion syndrome has variable clinical manifestations ,including multiple skeletal deformities( such as scoliosis),nervous system abnormalities( such as seizure,autism),other systems( such as repeated infection,endocrine abnormalities). The diagnosis of Chromosome 16p11. 2 deletion syndrome relies on chromosome chip detection technology and CGH microarray.%目的：提高对16p11.2缺失综合征的临床和基因特征的认识。方法总结分析1例16p11.2缺失综合征患儿的临床发现、辅助检查、诊断和随访资料，并文献复习。结果①患儿，男，2月13 d，因“发热近20 d伴咳嗽、腹泻”起病。入院查体可见右手六指畸形，脊柱侧弯，外周血淋巴细胞及其亚群明显低于正常同龄儿。X线胸片示胸椎9~12部分椎体呈半椎体畸形，胸骨塑形异常。予抗感染等治疗后好转，并呈多动兴奋表现。出院后随访提示淋巴细胞数量较住院时好转，但WBC、中性粒细胞及CD4+T细胞均低于正常值。患儿5月龄时诊断癫，予抗癫药物治疗有效。应用染色体芯片检测技术，并采用高密度寡核苷酸微阵列比较基因组杂交技术证实16p11.2区域缺失，缺失片段大小约0.5454 Mb，该区段所包含的基因有SPN、QPRT、Cl6orf54、KIF22、MAZ、SEZ6L2、CDIPT、ASPHDl、KCTDl3、TMEM2l9、TAOK2、DOC2A、TBX6等；患儿父母染色体芯片检查结果均未发现异常。确诊为16p11.2缺失综合征。②检索国内外报道的关于16p11.2缺失相关病例共1378例，临床表型涉及到神经系统表现547例（39.7%），内分泌系统371例（26.9%），生长发育与骨骼异常84例（6.1%），泌尿生殖与消化系统10例（0.7%），心血管系统4例（0.3%），免疫功能异常1例（0.07%），由于缺失片段大小不一，导致临床表型具有较大的异质性。结论多发骨骼畸形（尤其脊柱侧弯），伴神经系统异常（如癫、孤独症等），其他系统累及（如反复感染、内分泌异常等）应考虑16p11.2缺失综合征可能，通过染色体芯片检测技术以及高密度寡核苷酸微阵列比较基因组杂交技术帮助诊断。
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