3p21.31微缺失综合征1例报告并文献复习

罗俊; 邹彩艳; 徐芬; 黎红平; 黄艳; 王辉林; 卢光进

doi:10.11852/zgetbjzz2017-25-02-32

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中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (2) : 214-216. DOI: 10.11852/zgetbjzz2017-25-02-32

个案报道

3p21.31微缺失综合征1例报告并文献复习

罗俊¹,邹彩艳¹,徐芬¹,黎红平¹,黄艳¹,王辉林²,卢光进¹

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摘要

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,20 min,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(array-CGH)证实3p21.31区域微缺失,缺失片段大小为461 kb,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。

关键词

3号染色体 / 3p21.31微缺失综合征 / 眼睛异常中图分类号R179 文献标识码B 文章编号1008-6579(2017)02-0214-03 doi10.11852/zgetbjzz2017-25-02-32

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罗俊,邹彩艳,徐芬,黎红平,黄艳,王辉林,卢光进. 3p21.31微缺失综合征1例报告并文献复习[J]. 中国儿童保健杂志. 2017, 25(2): 214-216 https://doi.org/10.11852/zgetbjzz2017-25-02-32

中图分类号： R179

参考文献

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