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20号环状染色体综合征 被引量:3

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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
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参考文献23

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  • 2Garcia DM,Ortiz R,Gomez A,et al.Ring 20 chromosome syndrome with epilepsy and dysmorphic features:a case report.Epilepsia,2001,42:3607-1610.
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