摘要
20号环状染色体综合征是一种罕见的染色体异常疾病,其染色体异常为一条20号染色体的两臂断裂,之后在有着丝粒的两个断端重新融和,形成环状,因而得名环状染色体。其临床主要表现为难治性癫痢和行为异常、认知损害,
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2013年第9期710-712,共3页
Chinese Journal of Pediatrics
参考文献23
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同被引文献2
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1易致,王松涛,李琳,吴海荣,马祎楠,戚豫,潘虹.分子遗传学技术诊断MECP2重复综合征四例分析[J].中华儿科杂志,2014,52(12):937-941. 被引量:7
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2刘玉鹏,丁圆,李东晓,杨志仙,宋金青,王爽,杨艳玲,秦炯.20号环状染色体综合征导致难治性癫痫1例及其同胞产前诊断[J].中华实用儿科临床杂志,2017,32(14):1108-1110. 被引量:1
引证文献3
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1易致,潘虹,李琳,吴海荣,王松涛,马祎楠,戚豫.20号环状染色体综合征合并AGTR2单核苷酸多态性一例[J].中华儿科杂志,2017,55(5):388-389.
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