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Two cases of 22q11.2 deletion syndrome with convulsions as the main manifestation
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Biomedical Engineering
- Issue:
- 3
- DOI:
- 10.3760/cma.j.cn115668-20190312-00032
- Key Word:
- 22q11.2微缺失综合征;抽搐;染色体微阵列芯片技术
Abstract： 报道以不明原因抽搐为主要表现的患儿两例，通过染色体微阵列芯片技术分析诊断为22q11.2微缺失综合征，并结合文献报道，对两例患儿的临床表现、影像学及基因检测特点进行总结分析。染色体微阵列分析不仅可以精准诊断22q11.2微缺失综合征，且有助于理解该综合征基因型与临床表型的关系，提高临床诊治水平。
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