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20号环状染色体伴精神发育迟滞一例 被引量:1

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摘要 女,3岁9个月,以"不会说话"为代主诉入院。患儿系G1P1,足月顺产,无窒息史,出生体重3.2 kg,其母孕期体健。患儿交流态度欠佳,理解能力差,注意力不集中。查体:神志清,精神反应一般,无特殊面容及气味,头颅外观无畸形,头围46.5 cm(2.5百分位)。神经系统检查:听、视力粗试瞬目反射可引出。四肢肌张力正常。膝、跟腱反射可引出。双巴氏征、克氏征、布氏征均阴性,双踝阵挛阴性。
出处 《中华医学遗传学杂志》 CAS CSCD 2020年第7期805-805,共1页 Chinese Journal of Medical Genetics
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