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目的提高对3p21.31微缺失综合征的临床诊断和基因特征的认识。方法分析总结1例3p21.31微缺失综合征患儿的临床表型、辅助检查、诊断治疗及基因检测方面的资料,并文献复习。结果患儿女,20min,因“孕34+6周,生后反应低下”入院。入院后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(arrayCGH)证实3p21.31区域微缺失,缺失片段大小为461kb,该缺失区域内涉及多个OMIM疾病致病基因包括有QARS及LAMB2,患儿父母染色体芯片检查结果均未发现异常。复习文献报道3p21.31微缺失综合征的临床表型,主要有智力低下/发育迟缓、肌张力低下、弓形眉毛及眼睛异常。结论发育迟缓伴眼睛异常需注意考虑3p21.31微缺失综合征可能,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。
Objective To improve the clinical diagnosis and genetic characteristics of 3p21.31 microdeletion syndrome. Methods To summarize the clinical phenotypes, auxiliary examinations, diagnosis, treatment and gene detection of 1 case of 3p21.31 microdeletion syndrome and to review the literature. The results of children with children, 20min, due to “pregnant 34 + 6 weeks, postnatal hypothyroidism ” admission. The chromosomal microarray detection technique was applied after admission and the microdeletion in 3p21.31 region was confirmed by high-density oligonucleotide microarray comparative genomic hybridization (arrayCGH). The deletion fragment size was 461kb. The deletion region involved in the pathogenesis of multiple OMIM diseases Genes including QARS and LAMB2, pediatric chromosomal chip test results were found no abnormalities. Review of the literature reported 3p21.31 clinical manifestations of microdeletion syndrome, mainly mental retardation / growth retardation, hypotonia, arched eyebrows and eye abnormalities. Conclusion Strabismus and abnormal eyes should pay attention to considering the possibility of 3p21.31 microdeletion syndrome and to help the diagnosis through chromosome chip detection and high-density oligonucleotide microarray comparative genomic hybridization.